Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:06:04 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. Chromosome 12q13 Chromosome Strand - Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 51585127 : ATTCCTGAGA GCTCTCCTCA CCAAGAAGCA GCTTCTCCGC TCCTTCTAGG : 51585078 -95 : ATTCCTGAGA GCTCTCCTCA CCAAGAAGCA GCTTCTCCGC TCCTTCTAGG : -46 51585077 : ATCTCCGCCT GGTTCGGCCC GCCTGCCTCC ACTCCTGCCT CTACCATGTC : 51585028 -45 : ATCTCCGCCT GGTTCGGCCC GCCTGCCTCC ACTCCTGCCT CTACCATGTC : 5 1 : M S : 2 51585027 : CATCAGGGTG ACCCAGAAGT CCTACAAGGT GTCCACCTCT GGCCCCCGGG : 51584978 6 : CATCAGGGTG ACCCAGAAGT CCTACAAGGT GTCCACCTCT GGCCCCCGGG : 55 3 : I R V T Q K S Y K V S T S G P R : 18 VARIANTS : G : VARIANTS 51584977 : CCTTCAGCAG CCGCTCCTAC ACGAGTGGGC CCGGTTCCCG CATCAGCTCC : 51584928 56 : CCTTCAGCAG CCGCTCCTAC ACGAGTGGGC CCGGTTCCCG CATCAGCTCC : 105 19 : A F S S R S Y T S G P G S R I S S : 35 VARIANTS : R : VARIANTS 51584927 : TCGAGCTTCT CCCGAGTGGG CAGCAGCAAC TTTCGCGGTG GCCTGGGCGG : 51584878 106 : TCGAGCTTCT CCCGAGTGGG CAGCAGCAAC TTTCGCGGTG GCCTGGGCGG : 155 36 : S S F S R V G S S N F R G G L G G : 52 VARIANTS : T : VARIANTS VARIANTS : T C C T G : VARIANTS 51584877 : CGGCTATGGT GGGGCCAGCG GCATGGGAGG CATCACCGCA GTTACGGTCA : 51584828 156 : CGGCTATGGT GGGGCCAGCG GCATGGGAGG CATCACCGCA GTTACGGTCA : 205 53 : G Y G G A S G M G G I T A V T V : 68 VARIANTS : V H A H V : VARIANTS VARIANTS : C : VARIANTS VARIANTS : A : VARIANTS 51584827 : ACCAGAGCCT GCTGAGCCCC CTTGTCCTGG AGGTGGACCC CAACATCCAG : 51584778 206 : ACCAGAGCCT GCTGAGCCCC CTTGTCCTGG AGGTGGACCC CAACATCCAG : 255 69 : N Q S L L S P L V L E V D P N I Q : 85 51584777 : GCCGTGCGCA CCCAGGAGAA GGAGCAGATC AAGACCCTCA ACAACAAGTT : 51584728 256 : GCCGTGCGCA CCCAGGAGAA GGAGCAGATC AAGACCCTCA ACAACAAGTT : 305 86 : A V R T Q E K E Q I K T L N N K F : 102 51584727 : TGCCTCCTTC ATAGACAAGG TGAGGGTCCC CCCTGCGTGG CTGACTGTGC : 51584678 306 : TGCCTCCTTC ATAGACAAG : 324 103 : A S F I D K : 108 51584677 : CCGCAGCCCC TTTCTCCTGG TAGTCCCGGT CCCTATGCAC ATCTCCAGCC : 51584628 51584627 : CCCAGCTGGC GTCCTGCTGG GCCTCACCCG CCCTGGCGAC ACTCTCCCTT : 51584578 51584577 : CCATCCTCCG ACTCACCCCT CCCGTGCACC TTGGTTTGGG CTGGGTGAGG : 51584528 51584527 : GTGGGGAGAG GGTCTGGACA GCCGGGATGA ATCCTGGGGC TTCCTTCTTC : 51584478 51584477 : CCTTTTAAAC TGGAGGGTCT TGGAAGAGAG AGACAACTTA AGGGTACAGC : 51584428 51584427 : CTAGTTCCCA CCACCCCTCT CTACAAATCC CGTTCTTCCT CAGGTCATTC : 51584378 51584377 : TGTCCCCAAA TTATAAAAAA TAATAGCGGT TATTGTTCTC ACCCCAACCC : 51584328 51584327 : GAGTTCTGAC CGTCTTTTAA GCTATCGCCC TGCGGCAGTC CCAGCTGTTC : 51584278 51584277 : GGGGACTACC CTCCTCCAGG TTCGCCTCTT CGCCAGCACT ACCCCAAGGG : 51584228 51584227 : CTCCCCAGTG GTGCCTTTGT GATTTTTTTT CTTTCTTTTC TTTTTTTTAC : 51584178 51584177 : ATAGGGGTTT GGTGTGATTC TAGCATTCTA GGAGAAGGAA GTGGGTGTCT : 51584128 51584127 : CGGTTCAAAC GGGCAAATAT TGATTGAGGC CTTTGGCGCC CGGAGGCCTG : 51584078 51584077 : AGTGCGGGGG TCACAGAATG AGTCATACCC CGGCCCCTGC GCCGGCAGCG : 51584028 51584027 : TGGGCGGGGC CGAGGGCGGG GTGAGGGGCT GCGGGCAGCA GTCTCGGGAC : 51583978 51583977 : GCTCTCCTCC ACCTGGCGGA GCTCGGCGTC GGGGGCGGTG TGGGTGGGGT : 51583928 51583927 : GGGGTGGGGT GGGGTGGGCT GGGGTGGGGT GGAGGAGGCG CCAGGGCCTG : 51583878 51583877 : GCCTCGGAAA GCCCATGCAG GATTCAAAGT CTGCGGGCGT GGGACGCCCC : 51583828 51583827 : GCCCGGGGTT TACGTCCTGT TAAGTTTATG GCTTCAGATA ACGCGGTCGC : 51583778 51583777 : CCACCAACGC CCCTCGCCCA TTCAGCCCGT GTCCCTTTCT CGCGTCCTGT : 51583728 51583727 : CCCTGCTCCG CCCCAGCGGC CTGGCTCCAC TTTCACACAG CAGGAGCCAG : 51583678 51583677 : GCCGGGTTTT GCAGCCCTGG GACTCCGCTG CCTGAGGGGC CCCGGGCCCC : 51583628 51583627 : CGGCGGCCCC GAGGATTGGG CCCTTCACGC TGACTGGCTC CTGGGAGGCA : 51583578 51583577 : TTGTGGGAAC GGGAGGAGGG AAATCCTGGG GCAGAGTAAG CCGGGAGGAA : 51583528 51583527 : CCGGAGCCCC AGGAACCCAG TGGTCGGGGG CCCTTGGCGC TCCAAGCGCC : 51583478 51583477 : TGGACTTGAC TTGTTGACTG CGTTTTGCTA GCCCTGGGGT CCTTATAGAG : 51583428 51583427 : AGCAGCTAAG CATAGGCTTT GGAATCTGAA TTCTTGGTTC GCACTGCTCT : 51583378 51583377 : GCCGGTTCCT GGTTATGGAC TCCCTTGCCA AGTCTTATTT CCTCATCTAT : 51583328 51583327 : AAAATGAATA TGAGAGCCCC TAAATCCATA TAGGCAAAAG TTTTTGCCTA : 51583278 51583277 : TTCAAACTTA CATATGTAAA GAGTTCAGCA GTGCTTGGCC CACATTCCAT : 51583228 51583227 : TAGGATAAGA TGTTATAATC ACTTTTTTTT AAAAAATAAT TTTGGGGCAG : 51583178 51583177 : AATGACCTGG GGAAGAAAGC GATTTGCAGA GAGTGGTGGA GGGAACTAGG : 51583128 51583127 : CTGTACCCTT AAAAGATTTC TGTCCCCTCC AGTTTAGAAG GAGTTACAAG : 51583078 51583077 : TTTTTTTGTT TGTTTGAGAC AGAGTCTCAC TCTGTCGCCC AGGCTGGAGT : 51583028 51583027 : GCAGTGGTGT GATCTCAGCT CACTGCAACC TCCGCTTCCT GGGTTCAAGC : 51582978 51582977 : GATTCTCCTG CCTCAGCCTC CCGAGTAGCT GGGACTACAA GTGCGTGCCA : 51582928 51582927 : CCATGCCCGG TTAATTTTTG TATTATTTGT AGGGACAGGG TTTCAATATG : 51582878 51582877 : TTGGCCAGGC TGGTCTCGAA CTCCTGACTT CAAGAAATCC GCCTGCCTTG : 51582828 51582827 : GCCACCCAAA GTGCTGGGAT TACAAGCGTG AGCCTCCACG CCCGGCCTCT : 51582778 51582777 : TTTTCAATCT TAACATCTTT AGAAAGGTTG GCTATTTTTG GCCGGGCGCG : 51582728 51582727 : GTGGCTTACG CCTATAATCC CAGCACTTTG GGAGGCCAAG GCGGGCCAAT : 51582678 51582677 : CACAAGGTCA GGAGTTCGAG ACCATCCTGC CTAAGACGGT GAAACCCTGT : 51582628 51582627 : CTCTACTAAA AATACAAAAA AATTAGTGGG GCGTGGTGGC AGGCAGGTGC : 51582578 51582577 : CTGTAGCCCC AGCTACTCGG GAGGCTGAGG CAGGGGCAGG AGAATGGCAT : 51582528 51582527 : GAACTTGGGA GGCGGAGCTT GCAGTGAGCT GAGATCTTGC CACTGCACTC : 51582478 51582477 : CAGCCTGGGC GCCGGAGACT CCCAAAGAAA GCTTGGCTAT TTTTATTGAT : 51582428 51582427 : GTGTAATATA CAACCTATGT AAATGAAGTT AGGCCTATTG GTTTGCAAAT : 51582378 51582377 : GCAGCTTTAA CATAATTACC TTACCTGTCT CCTTCCCCTA CCCAATGCTG : 51582328 51582327 : AGGGACATTG CTCCCCACCT CACCATCATG CCATGCTTTC TCCCCCTGGT : 51582278 51582277 : CATAGGTGAT CTTTCCAGAA CAGCTAACCA GGTGCCTGGG GTCTGGAGAC : 51582228 51582227 : CTTACTGCTT GAGGAGTGAA TTAAGAGAAA AGACTGCTTG CTTTCCTCCA : 51582178 51582177 : GACTTTGAGC CCTGGCCTGA TGTAGACCTT TTTGCTCTCT CCTCCTTCGT : 51582128 51582127 : ATAGGTACGG TTCCTGGAGC AGCAGAACAA GATGCTGGAG ACCAAGTGGA : 51582078 325 : GTACGG TTCCTGGAGC AGCAGAACAA GATGCTGGAG ACCAAGTGGA : 370 109 : V R F L E Q Q N K M L E T K W : 123 51582077 : GCCTCCTGCA GCAGCAGAAG ACGGCTCGAA GCAACATGGA CAACATGTTC : 51582028 371 : GCCTCCTGCA GCAGCAGAAG ACGGCTCGAA GCAACATGGA CAACATGTTC : 420 124 : S L L Q Q Q K T A R S N M D N M F : 140 51582027 : GAGAGCTACA TCAACAACCT TAGGCGGCAG CTGGAGACTC TGGGCCAGGA : 51581978 421 : GAGAGCTACA TCAACAACCT TAGGCGGCAG CTGGAGACTC TGGGCCAGGA : 470 141 : E S Y I N N L R R Q L E T L G Q E : 157 51581977 : GAAGCTGAAG CTGGAGGCGG AGCTTGGCAA CATGCAGGGG CTGGTGGAGG : 51581928 471 : GAAGCTGAAG CTGGAGGCGG AGCTTGGCAA CATGCAGGGG CTGGTGGAGG : 520 158 : K L K L E A E L G N M Q G L V E : 173 51581927 : ACTTCAAGAA CAAGTGAGCA ACTCCCACCC TCCACCCAAC TGAAGTCACC : 51581878 521 : ACTTCAAGAA CAA : 533 174 : D F K N K : 178 51581877 : GTGCTCTCCT CCACCCCTTG GGACCTTGGG ACTAAGTCCC CATGGCCCTC : 51581828 51581827 : TGTTGTGGGA AGTGCAGTCC TATCTAATTA GGGTGACCAC CTGATGAGGT : 51581778 51581777 : TTGCTCGGAA CAGTCTGTGT TTATGCCCAG GTTCCTAGCA CAATTGTTGA : 51581728 51581727 : TAGTACCCAC CCCCTTTCAA TCTCAACTGT CTGGATTTGA AGAACAAATT : 51581678 51581677 : ATGTGTCAAT GTTGACATGG TAAACCTGAG ACGGGAGAGA TAGGCAGCCT : 51581628 51581627 : GTGGGCCTCA CTTTTGTACT TAACATTCTG GCCCCTCTTT AGTCTTGACC : 51581578 51581577 : CTTGACCTCT AGCAAACTCT AGAAAGTTCT GTCTGAGGTC TCATGTCAGG : 51581528 51581527 : CCCTGCTGTT AACACTCTCA AGGTGTCCAA TCCGATGTGT ATTCATGGAT : 51581478 51581477 : TTGGAGAGAG ATTTCCTGCT TCCCACGGGC TAAGGGAGGG GTGAGGGTGG : 51581428 51581427 : AGAGGGCAGC TGGGGAAGGC AGAAGGACCA GCCTTCTCAT ATCCTGCATC : 51581378 51581377 : TCTGTGAACT GAATTTTCCT GATTTTCACA ACGCCCCTGT CTCCCAAAAG : 51581328 51581327 : ACCAAGGGCA ACCTCCCTTT TGCCTTCATC CTCTAATTGT AAGTCTTTTC : 51581278 51581277 : CTCACAGGTA TGAGGATGAG ATCAATAAGC GTACAGAGAT GGAGAACGAA : 51581228 534 : GTA TGAGGATGAG ATCAATAAGC GTACAGAGAT GGAGAACGAA : 576 179 : Y E D E I N K R T E M E N E : 192 51581227 : TTTGTCCTCA TCAAGAAGGT GAGGGAGTCT CCCTTCTCCT ATCTGGACAC : 51581178 577 : TTTGTCCTCA TCAAGAAG : 594 193 : F V L I K K : 198 51581177 : TGGAGGCTGG GGCTCAGAGA CTCAGACCAA GAAGCTTTCT GGGTTTTGTC : 51581128 51581127 : CCTAAATATT CCTAAGTAGT GGGACAAACT CATTTATGTA AACATTTGGG : 51581078 51581077 : TGCACAGAAA GGTAGACAAG GATGGAGTGG TAGGTGCATT TGGACAGAAC : 51581028 51581027 : TCTTGACATC GGTGTTGGGA CATGGTTCAG AAAACAGAGC AGTAGAACTG : 51580978 51580977 : GAGATCTGGC TCTAGAAGGC TCCCTAGAGA AGGAGGTGGA AGAGGGTGTG : 51580928 51580927 : TTGCAGGAAG CAGAGGTGAA GGTGTGTGGG CTGAGAATGC ACATGTGATG : 51580878 51580877 : GGCAGAGGCT GGGCTGGAAG ATCAATCCAC AAAGTGGGCA ACTAGAAAGT : 51580828 51580827 : CCTGTGACCA GGCCATTGGG TGGACCTTGG GAGCCCCTTG GTTGGGGTTG : 51580778 51580777 : GGTGTGGAAA CCCAGCTCAG GCTCCCCTCT CCTCATCCCC CAGGATGTGG : 51580728 595 : GATGTGG : 601 199 : D V : 200 51580727 : ATGAAGCTTA CATGAACAAG GTAGAGCTGG AGTCTCGCCT GGAAGGGCTG : 51580678 602 : ATGAAGCTTA CATGAACAAG GTAGAGCTGG AGTCTCGCCT GGAAGGGCTG : 651 201 : D E A Y M N K V E L E S R L E G L : 217 VARIANTS : G : VARIANTS 51580677 : ACCGACGAGA TCAACTTCCT CAGGCAGCTA TATGAAGAGG TATGTTCCTG : 51580628 652 : ACCGACGAGA TCAACTTCCT CAGGCAGCTA TATGAAGAG : 690 218 : T D E I N F L R Q L Y E E : 230 51580627 : GTCGCAGGAG AGTGAGGGTC CCCCAGCCTT GTCAGCGCCT CCACCCTGAG : 51580578 51580577 : ACTCAACCAG AGGCTCCTCC CAGCCCCCAG CACACTAATA AGACAAAGGC : 51580528 51580527 : CCACTGCTGA CTAATTACAG CCACCAATAT TTGCTCGGCT AGTATTTATT : 51580478 51580477 : GGGTCTATAT GTTCTGTCCC TCGCATGAGG GATGAGTCAT TACCCCATTT : 51580428 51580427 : CACAGACGAG AAAGTGGGCT CAGAGAAGTG AAATAACGTA TCCAAGGTCA : 51580378 51580377 : TCATAGGGTG TGGTGATTCA GCAGCAACTC TGTCCCCAAA GCCCTTGTTC : 51580328 51580327 : CTAATCTTTG AGCTGCATTG GATCCCTCTG TGCACCTAGT ATTGGTGCAC : 51580278 51580277 : CCAGTTCCTT TTTCAGGAAC TTTGCCCTCT CCCTGACCCT GACTCCCACC : 51580228 51580227 : TGCTCCTCTC CTCTGCTGCC CCTGTCTTAT ACCCTAAGAA AGGCTGTTGT : 51580178 51580177 : GGAAAAGGGG GCTCCCTGTG TGCAGAGACA GGGCCTCACC ACTTGCCCTC : 51580128 51580127 : TTCCCCCACA GGAGATCCGG GAGCTGCAGT CCCAGATCTC GGACACATCT : 51580078 691 : GAGATCCGG GAGCTGCAGT CCCAGATCTC GGACACATCT : 729 231 : E I R E L Q S Q I S D T S : 243 51580077 : GTGGTGCTGT CCATGGACAA CAGCCGCTCC CTGGACATGG ACAGCATCAT : 51580028 730 : GTGGTGCTGT CCATGGACAA CAGCCGCTCC CTGGACATGG ACAGCATCAT : 779 244 : V V L S M D N S R S L D M D S I I : 260 51580027 : TGCTGAGGTC AAGGCACAGT ACGAGGATAT TGCCAACCGC AGCCGGGCTG : 51579978 780 : TGCTGAGGTC AAGGCACAGT ACGAGGATAT TGCCAACCGC AGCCGGGCTG : 829 261 : A E V K A Q Y E D I A N R S R A : 276 51579977 : AGGCTGAGAG CATGTACCAG ATCAAGTATG AGGAGCTGCA GAGCCTGGCT : 51579928 830 : AGGCTGAGAG CATGTACCAG ATCAAGTATG AGGAGCTGCA GAGCCTGGCT : 879 277 : E A E S M Y Q I K Y E E L Q S L A : 293 51579927 : GGGAAGCACG GGGATGACCT GCGGCGCACA AAGACTGAGA TCTCTGAGAT : 51579878 880 : GGGAAGCACG GGGATGACCT GCGGCGCACA AAGACTGAGA TCTCTGAGAT : 929 294 : G K H G D D L R R T K T E I S E M : 310 VARIANTS : T : VARIANTS 51579877 : GAACCGGAAC ATCAGCCGGC TCCAGGCTGA GATTGAGGGC CTCAAAGGCC : 51579828 930 : GAACCGGAAC ATCAGCCGGC TCCAGGCTGA GATTGAGGGC CTCAAAGGCC : 979 311 : N R N I S R L Q A E I E G L K G : 326 VARIANTS : S : VARIANTS 51579827 : AGGTATGGGC CGGGTTGGGG GTGGGAGGGG TTCCTTGGAC ACATCCTGGT : 51579778 980 : AG : 981 327 : Q : 327 51579777 : GAGAGGAGAT AATGTAGGAA GAGTGAAGTT TCTGGGAGTC GGGGAAGGAA : 51579728 51579727 : TCCTAGACCA GGGTTCAGGA GTTGGAGGGG CAGCCACAGT TCAGCTTCTC : 51579678 51579677 : AGTCTGCTTC TGAGAAGCAA AGGGATGCAG GGAAGGTCCC TTGGGCCAGG : 51579628 51579627 : ACAGAGGTGA AAGGGGACTG GGGCAGGTAT GTTGGGGCTC GTGATACATG : 51579578 51579577 : CTCCCAAGCC TGCTTTAATC AGTCATATGC ATCAGGGTAA GGTTGAGCTC : 51579528 51579527 : TGCTGCTTTA AGGAAAGTCT AGAACCCAGG GATCTAGTCC AGTTAGGGTA : 51579478 51579477 : GGGGGACCTT ACAGTGTCGC AGGTGAGAAG GGTGTGGAGG GGAAGCACCT : 51579428 51579427 : GGAAACTGCT CATGTCTCCC TGATCTGCTT CCTTAGTCTC GTTTATTTAT : 51579378 51579377 : TTATTTATTT TTGAGACAGA GTCTTGCTCT GTCGCCCAGG CTGGAGTGCA : 51579328 51579327 : GTGGCGTGAT CTCGGCTCAC TGCAAGCTCC GCCTCCTGGG TTCACACTAT : 51579278 51579277 : TCTCCTGACT CAGCCTCCTG AGTAGCTGGG ACTACAGGCG CCCGCCACCA : 51579228 51579227 : GGCTGGCTAA TTTTTTTTGT ATTTTTACTA GAGACGGGGT TTCACTGTGT : 51579178 51579177 : TAGCCAGGAT GGCCTCGATC TCCTGACCTT GTGATCTGCC CGCCTCGGCC : 51579128 51579127 : TCCCAAAGTG CTGGGATTAC AGGCATGAGC CACTGTGCCC GGCCCTTAGT : 51579078 51579077 : CTCATTTAAT TTGAGCTGGG GGGAGTCAGC CTAGGTGGTG GTGGGGAGGA : 51579028 51579027 : CCCTGAGGGA GGGTGGGAGC ACGGGAGAAG AGAAGGCATA CCCAACCTGA : 51578978 51578977 : CCTACTTACC TGTCCCCTAC CCCACAGAGG GCTTCCCTGG AGGCCGCCAT : 51578928 982 : AGG GCTTCCCTGG AGGCCGCCAT : 1004 328 : R A S L E A A I : 335 VARIANTS : A : VARIANTS VARIANTS : TA : VARIANTS 51578927 : TGCAGATGCC GAGCAGCGTG GAGAGCTGGC CATTAAGGAT GCCAACGCCA : 51578878 1005 : TGCAGATGCC GAGCAGCGTG GAGAGCTGGC CATTAAGGAT GCCAACGCCA : 1054 336 : A D A E Q R G E L A I K D A N A : 351 VARIANTS : C : VARIANTS VARIANTS : H : VARIANTS VARIANTS : H : VARIANTS VARIANTS : A : VARIANTS 51578877 : AGTTGTCCGA GCTGGAGGCC GCCCTGCAGC GGGCCAAGCA GGACATGGCG : 51578828 1055 : AGTTGTCCGA GCTGGAGGCC GCCCTGCAGC GGGCCAAGCA GGACATGGCG : 1104 352 : K L S E L E A A L Q R A K Q D M A : 368 VARIANTS : T : VARIANTS VARIANTS : A A : VARIANTS 51578827 : CGGCAGCTGC GTGAGTACCA GGAGCTGATG AACGTCAAGC TGGCCCTGGA : 51578778 1105 : CGGCAGCTGC GTGAGTACCA GGAGCTGATG AACGTCAAGC TGGCCCTGGA : 1154 369 : R Q L R E Y Q E L M N V K L A L D : 385 VARIANTS : I : VARIANTS 51578777 : CATCGAGATC GCCACCTACA GGAAGCTGCT GGAGGGCGAG GAGAGCCGGT : 51578728 1155 : CATCGAGATC GCCACCTACA GGAAGCTGCT GGAGGGCGAG GAGAGCCG : 1202 386 : I E I A T Y R K L L E G E E S R : 401 VARIANTS : T : VARIANTS 51578727 : GGGTGTGGGT ACCTCTGACC GGACCTGCTT CCCTATCCCT GGGACCTGGG : 51578678 51578677 : GTGGGGACGG TGGGAGCCCC CTGAAGCCCC TTGGGACTTG GGGTCCTGTT : 51578628 51578627 : GTTCTGGGCC AAGAAGGGCT AGGAGTTGGT CCTGACACCC CATTTGTCTG : 51578578 51578577 : GGTACAGGCT GGAGTCTGGG ATGCAGAACA TGAGTATTCA TACGAAGACC : 51578528 1203 : GCT GGAGTCTGGG ATGCAGAACA TGAGTATTCA TACGAAGACC : 1245 402 : L E S G M Q N M S I H T K T : 415 VARIANTS : d A : VARIANTS 51578527 : ACCAGCGGCT ATGCAGGTGG GTGTCCCAGG GCCCTGGGAT GAGGGCGGGA : 51578478 1246 : ACCAGCGGCT ATGCAG : 1261 416 : T S G Y A : 420 51578477 : GGCAGGGCCC AGGGAGGCCT CAGCTCCAGG GAGGGGGCTG TGCTCAGTCG : 51578428 51578427 : CTCACAGTGA CCTCAGCCTG AGCACTCATG TTCTTGGGAG AATCCTAGGG : 51578378 51578377 : TGGGGAGGCA CATATTCAGG ACCCCAGTAA TAACTTTATT ACTTAGTAAC : 51578328 51578327 : TTTACTATTA GAAAGCACCC AAATAAACCA TAGCTGTGTG CCAGGCACTG : 51578278 51578277 : TGCTAAGTAT CCTACAGGTT TTATGTGATT TATTTTATTT ATTAATTTAA : 51578228 51578227 : TTTAATTTTT TTGAGACGAA GTCTCGCTCT GTCACCCAAG CTGGAGTGCA : 51578178 51578177 : GTGGCGTGAT CTCAGCTCAC TGTAACCTCC ACCTCCTGGG TTCAAGAGAT : 51578128 51578127 : TCTCCTGCCT CAGGCCTCCC AAGTAGCTGG GACTACAGGC GCATACCACC : 51578078 51578077 : ATGCCCAGCT AATTTTTGTA TTTTTAGTAG AGACGGGGTT TCACTGTGTT : 51578028 51578027 : GGGCAGGCTG GTCTCGAACT CCTGACCTTG TGATCAGTGC TGGGATTACA : 51577978 51577977 : GGCATGAGAC ACTGGGCCTG GCTGTAATTT ATTTTTTATA TGACACCTGT : 51577928 51577927 : AAACGTCTTC AGTTGAGGAA GCTGAGGTGC AGCTAAATGT CCAAGGTCAC : 51577878 51577877 : ACAGCTATAT ATATGGCAGC TGTTTTCCAC CCTGCTCCTG GTTTTCCCTG : 51577828 51577827 : ACAGTTCTGG AGTAGTGAAC CATGCAATCA CTGATCAGGC AGAGCTGGGT : 51577778 51577777 : TAACCTCCCA TCCCTGGGGC TATGTTGGGA ATGAGCAGGG AGAAGGGGCA : 51577728 51577727 : TGGAGCCTGC CATGGGGTGG GCTTCTGTAC TCATGTGGCT ACCTCTGTCC : 51577678 VARIANTS : A : VARIANTS 51577677 : CTCACCAGGT GGTCTGAGCT CGGCCTATGG GGGCCTCACA AGCCCCGGCC : 51577628 1262 : GT GGTCTGAGCT CGGCCTATGG GGGCCTCACA AGCCCCGGCC : 1303 421 : G G L S S A Y G G L T S P G : 434 VARIANTS : S : VARIANTS 51577627 : TCAGCTACAG CCTGGGCTCC AGCTTTGGCT CTGGCGCGGG CTCCAGCTCC : 51577578 1304 : TCAGCTACAG CCTGGGCTCC AGCTTTGGCT CTGGCGCGGG CTCCAGCTCC : 1353 435 : L S Y S L G S S F G S G A G S S S : 451 VARIANTS : T T i : VARIANTS 51577577 : TTCAGCCGCA CCAGCTCCTC CAGGGCCGTG GTTGTGAAGA AGATCGAGAC : 51577528 1354 : TTCAGCCGCA CCAGCTCCTC CAGGGCCGTG GTTGTGAAGA AGATCGAGAC : 1403 452 : F S R T S S S R A V V V K K I E T : 468 VARIANTS : C N f : VARIANTS 51577527 : ACGTGATGGG AAGCTGGTGT CTGAGTCCTC TGACGTCCTG CCCAAGTGAA : 51577478 1404 : ACGTGATGGG AAGCTGGTGT CTGAGTCCTC TGACGTCCTG CCCAAGTGAA : *1 469 : R D G K L V S E S S D V L P K : 483 VARIANTS : T T A : VARIANTS 51577477 : CAGCTGCGGC AGCCCCTCCC AGCCTACCCC TCCTGCGCTG CCCCAGAGCC : 51577428 *2 : CAGCTGCGGC AGCCCCTCCC AGCCTACCCC TCCTGCGCTG CCCCAGAGCC : *51 51577427 : TGGGAAGGAG GCCGCTATGC AGGGTAGCAC TGGGAACAGG AGACCCACCT : 51577378 *52 : TGGGAAGGAG GCCGCTATGC AGGGTAGCAC TGGGAACAGG AGACCCACCT : *101 51577377 : GAGGCTCAGC CCTAGCCCTC AGCCCACCTG GGGAGTTTAC TACCTGGGGA : 51577328 *102 : GAGGCTCAGC CCTAGCCCTC AGCCCACCTG GGGAGTTTAC TACCTGGGGA : *151 51577327 : CCCCCCTTGC CCATGCCTCC AGCTACAAAA CAATTCAATT GCTTTTTTTT : 51577278 *152 : CCCCCCTTGC CCATGCCTCC AGCTACAAAA CAATTCAATT GCTTTTTTTT : *201 51577277 : TTTGGTCCAA AATAAAACCT CAGCTAGCTC TGCCAATGTC : 51577238 *202 : TTTGGTCCAA AATAAAACCT CAGCTAGCTC TGCCAATGTC : *241 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:06:04 RefSeq ID NM_002273.2 GI 68226427 Length 1788 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -95 ATTCCTGAGA GCTCTCCTCA CCAAGAAGCA GCTTCTCCGC TCCTTCTAGG -46 -45 ATCTCCGCCT GGTTCGGCCC GCCTGCCTCC ACTCCTGCCT CTACCATGTC 5 6 CATCAGGGTG ACCCAGAAGT CCTACAAGGT GTCCACCTCT GGCCCCCGGG 55 56 CCTTCAGCAG CCGCTCCTAC ACGAGTGGGC CCGGTTCCCG CATCAGCTCC 105 106 TCGAGCTTCT CCCGAGTGGG CAGCAGCAAC TTTCGCGGTG GCCTGGGCGG 155 156 CGGCTATGGT GGGGCCAGCG GCATGGGAGG CATCACCGCA GTTACGGTCA 205 206 ACCAGAGCCT GCTGAGCCCC CTTGTCCTGG AGGTGGACCC CAACATCCAG 255 256 GCCGTGCGCA CCCAGGAGAA GGAGCAGATC AAGACCCTCA ACAACAAGTT 305 306 TGCCTCCTTC ATAGACAAGG TACGGTTCCT GGAGCAGCAG AACAAGATGC 355 356 TGGAGACCAA GTGGAGCCTC CTGCAGCAGC AGAAGACGGC TCGAAGCAAC 405 406 ATGGACAACA TGTTCGAGAG CTACATCAAC AACCTTAGGC GGCAGCTGGA 455 456 GACTCTGGGC CAGGAGAAGC TGAAGCTGGA GGCGGAGCTT GGCAACATGC 505 506 AGGGGCTGGT GGAGGACTTC AAGAACAAGT ATGAGGATGA GATCAATAAG 555 556 CGTACAGAGA TGGAGAACGA ATTTGTCCTC ATCAAGAAGG ATGTGGATGA 605 606 AGCTTACATG AACAAGGTAG AGCTGGAGTC TCGCCTGGAA GGGCTGACCG 655 656 ACGAGATCAA CTTCCTCAGG CAGCTATATG AAGAGGAGAT CCGGGAGCTG 705 706 CAGTCCCAGA TCTCGGACAC ATCTGTGGTG CTGTCCATGG ACAACAGCCG 755 756 CTCCCTGGAC ATGGACAGCA TCATTGCTGA GGTCAAGGCA CAGTACGAGG 805 806 ATATTGCCAA CCGCAGCCGG GCTGAGGCTG AGAGCATGTA CCAGATCAAG 855 856 TATGAGGAGC TGCAGAGCCT GGCTGGGAAG CACGGGGATG ACCTGCGGCG 905 906 CACAAAGACT GAGATCTCTG AGATGAACCG GAACATCAGC CGGCTCCAGG 955 956 CTGAGATTGA GGGCCTCAAA GGCCAGAGGG CTTCCCTGGA GGCCGCCATT 1005 1006 GCAGATGCCG AGCAGCGTGG AGAGCTGGCC ATTAAGGATG CCAACGCCAA 1055 1056 GTTGTCCGAG CTGGAGGCCG CCCTGCAGCG GGCCAAGCAG GACATGGCGC 1105 1106 GGCAGCTGCG TGAGTACCAG GAGCTGATGA ACGTCAAGCT GGCCCTGGAC 1155 1156 ATCGAGATCG CCACCTACAG GAAGCTGCTG GAGGGCGAGG AGAGCCGGCT 1205 1206 GGAGTCTGGG ATGCAGAACA TGAGTATTCA TACGAAGACC ACCAGCGGCT 1255 1256 ATGCAGGTGG TCTGAGCTCG GCCTATGGGG GCCTCACAAG CCCCGGCCTC 1305 1306 AGCTACAGCC TGGGCTCCAG CTTTGGCTCT GGCGCGGGCT CCAGCTCCTT 1355 1356 CAGCCGCACC AGCTCCTCCA GGGCCGTGGT TGTGAAGAAG ATCGAGACAC 1405 1406 GTGATGGGAA GCTGGTGTCT GAGTCCTCTG ACGTCCTGCC CAAGTGAACA *3 *4 GCTGCGGCAG CCCCTCCCAG CCTACCCCTC CTGCGCTGCC CCAGAGCCTG *53 *54 GGAAGGAGGC CGCTATGCAG GGTAGCACTG GGAACAGGAG ACCCACCTGA *103 *104 GGCTCAGCCC TAGCCCTCAG CCCACCTGGG GAGTTTACTA CCTGGGGACC *153 *154 CCCCTTGCCC ATGCCTCCAG CTACAAAACA ATTCAATTGC TTTTTTTTTT *203 *204 TGGTCCAAAA TAAAACCTCA GCTAGCTCTG CCAATGTC Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:06:04 RefSeq ID NP_002264.1 GI 4504919 Isoelectric Point 5.2556 Molecular Weight 53704.1 Daltons Length 483 amino acids Download File | Text Sequence 1 MSIRVTQKSY KVSTSGPRAF SSRSYTSGPG SRISSSSFSR VGSSNFRGGL 50 51 GGGYGGASGM GGITAVTVNQ SLLSPLVLEV DPNIQAVRTQ EKEQIKTLNN 100 101 KFASFIDKVR FLEQQNKMLE TKWSLLQQQK TARSNMDNMF ESYINNLRRQ 150 151 LETLGQEKLK LEAELGNMQG LVEDFKNKYE DEINKRTEME NEFVLIKKDV 200 201 DEAYMNKVEL ESRLEGLTDE INFLRQLYEE EIRELQSQIS DTSVVLSMDN 250 251 SRSLDMDSII AEVKAQYEDI ANRSRAEAES MYQIKYEELQ SLAGKHGDDL 300 301 RRTKTEISEM NRNISRLQAE IEGLKGQRAS LEAAIADAEQ RGELAIKDAN 350 351 AKLSELEAAL QRAKQDMARQ LREYQELMNV KLALDIEIAT YRKLLEGEES 400 401 RLESGMQNMS IHTKTTSGYA GGLSSAYGGL TSPGLSYSLG SSFGSGAGSS 450 451 SFSRTSSSRA VVVKKIETRD GKLVSESSDV LPK Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 91 1A 92 126 L1 127 136 1B 137 237 L12 238 254 2A 255 273 L2 274 281 2B 282 402 Tail 403 483 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 16:36:14 Clone Name Species Reported Specificity Epitope Reference 2.1.D7 rat K5, K6a, K6b, K6c, K8 - Purkis et al, 1990 35βH11 mouse K8 - Gown and Vogel, 1984 4.1.18 mouse K8 - Baricault et al, 1994 6D7 mouse K8 within 2B domain Stigbrand et al, 1998 A45-B/B3 mouse K8, K18, K19 within 2B domain Karsten et al, 1983, Waseem et al, 2004 C-10 mouse K6a, K6b, K6c, K8 - Upasani et al, 2004, Kovarík et al, 1988, Macák and Unger, 1991 C-15 mouse K8 - Bártek et al, 1991 C-22 mouse K5, K8 - Stasková et al, 1991, Upasani et al, 2004 C-23 mouse K8, K18 - Bártek et al, 1991, Stasková et al, 1991 C-36 mouse K8 - Stasková et al, 1991 C-43 mouse K8 - Bártek et al, 1991, Bártek et al, 1986 C-47 mouse K8 - Stasková et al, 1991 C-50 mouse K5, K8 - Stasková et al, 1991 C-51 mouse K8, K18 - Stasková et al, 1991, Lim et al, 2002 C-61 mouse K8 - Stasková et al, 1991 CAM5.2 mouse K7, K8 - Makin et al, 1984 CK8 mouse K8 - Savino and Dardenne, 1988 CYK Mab No. 2 mouse K8 - Stigbrand et al, 1998 H1 mouse K8 - Guelstein et al, 1988 KB 37 mouse K8, K18, K20 - Pelissier et al, 1990, Shezen et al, 1995 Ks 18.18 mouse [K8 + K18] - Franke et al, 1987 Ks 8.1.42 mouse K8 - Bosch et al, 1988 Ks 8.17.2 mouse K8 - Owaribe et al, 1988 Ks pan 1-8 mouse K8 - Baricault et al, 1994 LE41 mouse K8 SLLSP within H1 region of head domain Lane, 1982, Böttger and Lane, 1994 LE65 mouse K8, K18 within 1B, L12 and 2A domains Lane, 1982, Waseem et al, 1997 LJ4 mouse Phosphorylated K8 includes Ser(P)-73 Liao et al, 1997 LP3K mouse K7, K8 within 2B domain Lane et al, 1985, Waseem et al, 2004 LP5K mouse K7, K8 - Lane et al, 1985, Fradette et al, 1998 M20 mouse K8 - Schaafsma et al, 1990, Bosch et al, 1988 M3 mouse K8 within L2/2A/L2/2B/Tail domains Bonfrer et al, 1994, Stigbrand et al, 1998 NCL-5D3 mouse K8, K18 - Angus et al, 1987, Pérez et al, 1997 OCS-1 mouse K5, K8 - Lehtonen, 1985 PKK1 mouse K7, K8, K17, K18, K19 - Holthöfer et al, 1984, Vigneswaran et al, 1990, Tatemoto et al, 1988 RCK102 mouse K5, K8 - Ramaekers et al, 1987 SA 05 mouse K8 within 2B domain Stigbrand et al, 1998 SK 60-61 mouse K8, K18 - Cintorino et al, 1988 TROMA-1 mouse K7, K8 - Kemler et al, 1981, Saurat and Didierjean, 1984 TS 1 E6 mouse K8 within 2B domain Stigbrand et al, 1998 TS1 mouse K8 within 2B domain Sundström et al, 1989, Johansson et al, 1999 TS3 mouse K7, K8 - Sundström et al, 1989 TS4 mouse K1, K5, K7, K8, K15 - Sundström et al, 1989, Upasani et al, 2004 TS7 mouse K7, K8 within 2B domain Sundström et al, 1989, Stigbrand et al, 1998 UCD/PR-10.11 mouse K8, K18 - Chan et al, 1988 Back to top

RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT

The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 55643. Information last updated on 2007-08-17 12:27:29 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 25626 NM_199370.1 NP_955402.1 Rodents Mus musculus 16691 NM_031170.2 NP_112447.1 Rodents Canis familiaris 486513 XM_543639.2 XP_543639.2 Mammals Pan troglodytes 743020 XM_001158862.1 XP_001158862.1 Primates Vertebrate ClustalW multiple sequence alignments Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences. Type of ClustalW alignment Download in FASTA format View file in FASTA format Nucleotide file view Protein file view Back to top

ASSOCIATED DISEASES
Information last updated on 2009-10-28 15:21:51 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Cryptogenic cirrhosis #215600 Inflammatory bowel disease IBD #266600 Liver disease Noncryptogenic cirrhosis #215600 Pancreatitis Primary biliary cirrhosis PBC %109720 Viral hepatitis Back to top

SEQUENCE VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-10-28 15:21:51 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. ID DNA Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference 13815 c.184G>T Substitution p.Gly62Cys Substitution - PBC Zhong et al, 2009 13689 c.184G>T Substitution p.Gly62Cys Substitution - PBC Zhong et al, 2009 13690 c.184G>T Substitution p.Gly62Cys Substitution - PBC Zhong et al, 2009 13691 c.184G>T Substitution p.Gly62Cys Substitution - PBC Zhong et al, 2009 13693 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13695 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13696 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13697 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13698 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13699 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13700 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13701 c.1022G>A Substitution p.Arg341His Substitution - PBC Zhong et al, 2009 13704 c.1138G>A Substitution p.Val380Ile Substitution - PBC Zhong et al, 2009 11694 c.77C>G Substitution p.Thr26Arg Substitution Head Liver disease Strnad et al, 2006 8643 c.158G>T Substitution p.Gly53Val Substitution Head Viral hepatitis Ku et al, 2003 8641 c.160T>C Substitution p.Tyr54His Substitution Head Cryptogenic cirrhosis Ku et al, 2001 8642 c.160T>C Substitution p.Tyr54His Substitution Head Cryptogenic cirrhosis Ku et al, 2001 8644 c.160T>C Substitution p.Tyr54His Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 11445 c.160T>C Substitution p.Tyr54His Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 11446 c.160T>C Substitution p.Tyr54His Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 8980 c.160T>C Substitution p.Tyr54His Substitution Head Liver disease Halangk et al, 2004 11695 c.160T>C Substitution p.Tyr54His Substitution Head Liver disease Strnad et al, 2006 11696 c.164G>C Substitution p.Gly55Ala Substitution Head Liver disease Strnad et al, 2006 9508 c.184G>T Substitution p.Gly62Cys Substitution Head Cryptogenic cirrhosis Ku et al, 2001 11404 c.184G>T Substitution p.Gly62Cys Substitution Head Cryptogenic cirrhosis Ku et al, 2001 11405 c.184G>T Substitution p.Gly62Cys Substitution Head Cryptogenic cirrhosis Ku et al, 2001 8647 c.184G>T Substitution p.Gly62Cys Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 11447 c.184G>T Substitution p.Gly62Cys Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 11448 c.184G>T Substitution p.Gly62Cys Substitution Head Noncryptogenic cirrhosis Ku et al, 2003 8650 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 11456 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 11457 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 11458 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 11459 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 11460 c.184G>T Substitution p.Gly62Cys Substitution Head Pancreatitis Cavestro et al, 2003 9273 c.184G>T Substitution p.Gly62Cys Substitution Head IBD Owens et al, 2004 11471 c.184G>T Substitution p.Gly62Cys Substitution Head IBD Owens et al, 2004 11472 c.184G>T Substitution p.Gly62Cys Substitution Head IBD Owens et al, 2004 8981 c.184G>T Substitution p.Gly62Cys Substitution Head Liver disease Halangk et al, 2004 8982 c.184G>T Substitution p.Gly62Cys Substitution Head IBD Büning et al, 2004 9212 c.184G>T Substitution p.Gly62Cys Substitution Head Liver disease Strnad et al, 2006 11648 c.184G>T Substitution p.Gly62Cys Substitution Head - Schöniger-Hekele et al, 2006 11650 c.184G>T Substitution p.Gly62Cys Substitution Head Liver disease Schöniger-Hekele et al, 2006 11697 c.184G>T Substitution p.Gly62Cys Substitution Head Liver disease Strnad et al, 2006 11734 c.184G>T Substitution p.Gly62Cys Substitution Head Liver disease Schöniger-Hekele et al, 2006 12109 c.184G>T Substitution p.Gly62Cys Substitution Head IBD* Tao et al, 2007 12108 c.184G>T Substitution p.Gly62Cys Substitution Head IBD* Tao et al, 2007 12110 c.184G>T Substitution p.Gly62Cys Substitution Head IBD* Tao et al, 2007 12111 c.184G>T Substitution p.Gly62Cys Substitution Head IBD* Tao et al, 2007 12112 c.184G>T Substitution p.Gly62Cys Substitution Head IBD* Tao et al, 2007 12370 c.[184G>T; =]+[=; 1022G>A] Substitution p.[Gly62His; =]+[=; Arg341His] Substitution Head, 2B IBD Tao et al, 2007 9274 c.187A>G Substitution p.Ile63Val Substitution Head IBD Owens et al, 2004 9138 c.187A>G Substitution p.Ile63Val Substitution Head Liver disease Strnad et al, 2006 11529 c.187A>G Substitution p.Ile63Val Substitution Head Liver disease Strnad et al, 2006 11698 c.187A>G Substitution p.Ile63Val Substitution Head Liver disease Strnad et al, 2006 11701 c.955G>T Substitution p.Ala319Ser Substitution 2B Liver disease Strnad et al, 2006 12127 c.1021C>T Substitution p.Arg341Cys Substitution 2B IBD* Tao et al, 2007 11702 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 9142 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Ku et al, 2005 9139 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11530 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11531 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11532 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11533 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11534 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 11535 c.1022G>A Substitution p.Arg341His Substitution 2B Liver disease Strnad et al, 2006 12116 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12117 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12118 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12119 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12120 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12121 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12122 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12123 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 12124 c.1022G>A Substitution p.Arg341His Substitution 2B IBD* Tao et al, 2007 11703 c.1075G>A Substitution p.Ala359Thr Substitution 2B Liver disease Strnad et al, 2006 9140 c.1128G>A Substitution p.= Silent Not affected - Strnad et al, 2006 9141 c.1138G>A Substitution p.Val380Ile Substitution 2B Liver disease Strnad et al, 2006 11706 c.1202+46A>T Substitution p.= Silent Not affected - Strnad et al, 2006 11707 c.1261+10delC Deletion p.= Silent Not affected - Strnad et al, 2006 11708 c.1261+20G>A Substitution p.= Silent Not affected - Strnad et al, 2006 9143 c.1300G>A Substitution p.Gly434Ser Substitution Tail Liver disease Ku et al, 2005 9144 c.1360C>T Substitution p.Arg454Cys Substitution Tail Liver disease Ku et al, 2005 9275 c.1392G>T Substitution p.Lys464Asn Substitution Tail IBD Owens et al, 2004 9145 c.1399_1399insC Insertion p.Glu467ArgfsX4 Frame shift Tail Liver disease Ku et al, 2005 11709 c.*8C>T Substitution p.= Silent Not affected - Strnad et al, 2006 11710 c.*31C>T Substitution p.= Silent Not affected - Strnad et al, 2006 11711 c.*38G>A Substitution p.= Silent Not affected - Strnad et al, 2006 Back to top

ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-10-28 16:17:17 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 13713 c.187A>G Substitution p.Ile63Val Substitution - Italian - Zhong et al, 2009 13718 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13719 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13720 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13721 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13722 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13723 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13724 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13725 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13726 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13727 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13728 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13729 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13730 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13731 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13732 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13733 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13734 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13735 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13736 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13737 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13738 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13739 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13740 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13741 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13742 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13743 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13744 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13745 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13746 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13747 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13748 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13749 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13750 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13751 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13752 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13753 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13754 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13755 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13756 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13757 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13758 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13759 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13760 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13761 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13762 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13763 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13764 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13765 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13766 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13767 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13768 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13769 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13770 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13771 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13772 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13773 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13774 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13775 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13776 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13777 c.681A>G Substitution p.= Silent - Italian - Zhong et al, 2009 13779 c.1202+46A>T Substitution p.= Silent - Italian - Zhong et al, 2009 13794 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13795 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13796 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13797 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13798 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13799 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13800 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13801 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13802 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13803 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 13804 c.1261+10delC Deletion p.= Silent - Italian - Zhong et al, 2009 14001 c.1022G>A Substitution p.Arg341His Substitution - Italian - Zhong et al, 2009 14002 c.1022G>A Substitution p.Arg341His Substitution - Italian - Zhong et al, 2009 14003 c.1022G>A Substitution p.Arg341His Substitution - Italian - Zhong et al, 2009 11939 c.160T>C Substitution p.Tyr54His Substitution Head Czech Republican - Treiber et al, 2006 11940 c.160T>C Substitution p.Tyr54His Substitution Head German - Treiber et al, 2006 11941 c.160T>C Substitution p.Tyr54His Substitution Head Italian - Treiber et al, 2006 11959 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11958 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11957 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11954 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11955 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11956 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11948 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11949 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11950 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11951 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11952 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11953 c.160T>C Substitution p.Tyr54His Substitution Head Beninis - Treiber et al, 2006 11960 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11961 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11962 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11963 c.160T>C Substitution p.Tyr54His Substitution Head Cameroonian - Treiber et al, 2006 11966 c.160T>C Substitution p.Tyr54His Substitution Head Ethiopian - Treiber et al, 2006 11967 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11968 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11969 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11970 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11971 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11972 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11973 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11974 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11975 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11976 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11977 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11978 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11979 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11980 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11981 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11982 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11983 c.160T>C Substitution p.Tyr54His Substitution Head African Ecuadorians - Treiber et al, 2006 11649 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Schöniger-Hekele et al, 2006 11801 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11799 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11800 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11802 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11803 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11804 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11805 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11806 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11807 c.184G>T Substitution p.Gly62Cys Substitution Head Austrian - Treiber et al, 2006 11903 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11845 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11846 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11847 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11848 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11849 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11850 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11851 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11852 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11853 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11854 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11855 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11856 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11857 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11858 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11859 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11860 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11861 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11862 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11863 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11864 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11865 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11866 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11867 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11868 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11869 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11870 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11871 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11872 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11873 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11874 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11875 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11876 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11877 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11878 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11879 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11880 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11881 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11882 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11883 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11884 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11885 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11886 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11887 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11888 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11889 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11890 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11891 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11892 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11893 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11894 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11895 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11896 c.184G>T Substitution p.Gly62Cys Substitution Head German - Treiber et al, 2006 11897 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11898 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11899 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11900 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11901 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11902 c.184G>T Substitution p.Gly62Cys Substitution Head Czech Republican - Treiber et al, 2006 11904 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11905 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11906 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11907 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11908 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11909 c.184G>T Substitution p.Gly62Cys Substitution Head British - Treiber et al, 2006 11910 c.184G>T Substitution p.Gly62Cys Substitution Head Italian - Treiber et al, 2006 11911 c.184G>T Substitution p.Gly62Cys Substitution Head Italian - Treiber et al, 2006 11912 c.184G>T Substitution p.Gly62Cys Substitution Head Italian - Treiber et al, 2006 11913 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11914 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11915 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11916 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11917 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11918 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11919 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11920 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11921 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11922 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11923 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11924 c.184G>T Substitution p.Gly62Cys Substitution Head Dutch - Treiber et al, 2006 11926 c.184G>T Substitution p.Gly62Cys Substitution Head Romanian - Treiber et al, 2006 11927 c.184G>T Substitution p.Gly62Cys Substitution Head Spanish - Treiber et al, 2006 11928 c.184G>T Substitution p.Gly62Cys Substitution Head Spanish - Treiber et al, 2006 11929 c.184G>T Substitution p.Gly62Cys Substitution Head Spanish - Treiber et al, 2006 11930 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11931 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11932 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11933 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11934 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11935 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11936 c.184G>T Substitution p.Gly62Cys Substitution Head Swiss - Treiber et al, 2006 11937 c.184G>T Substitution p.Gly62Cys Substitution Head Turkish - Treiber et al, 2006 11938 c.184G>T Substitution p.Gly62Cys Substitution Head Turkish - Treiber et al, 2006 11964 c.184G>T Substitution p.Gly62Cys Substitution Head Ethiopian - Treiber et al, 2006 11965 c.184G>T Substitution p.Gly62Cys Substitution Head Ethiopian - Treiber et al, 2006 12060 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12061 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12062 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12063 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12064 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12065 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12066 c.184G>T Substitution p.Gly62Cys Substitution Head Americans - Schneider et al, 2006 12131 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12132 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12133 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12134 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12135 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12136 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12137 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12138 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12139 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12140 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12141 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12142 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12143 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12144 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12145 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12146 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12147 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12148 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12149 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12150 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12151 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12152 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12153 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12154 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12155 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12156 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12157 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12158 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12159 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12160 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12161 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12162 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12163 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12164 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12165 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12166 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12167 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12168 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12169 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12170 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12171 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 12172 c.184G>T Substitution p.Gly62Cys Substitution Head - - Tao et al, 2007 8656 c.187A>G Substitution p.Ile63Val Substitution Head mixed - Ku et al, 2005 12068 c.187A>G Substitution p.Ile63Val Substitution Head Americans - Schneider et al, 2006 12069 c.187A>G Substitution p.Ile63Val Substitution Head Americans - Schneider et al, 2006 12070 c.187A>G Substitution p.Ile63Val Substitution Head Americans - Schneider et al, 2006 12071 c.187A>G Substitution p.Ile63Val Substitution Head Americans - Schneider et al, 2006 12072 c.187A>G Substitution p.Ile63Val Substitution Head Americans - Schneider et al, 2006 12320 c.187A>G Substitution p.Ile63Val Substitution Head - - Tao et al, 2007 12321 c.187A>G Substitution p.Ile63Val Substitution Head - - Tao et al, 2007 12322 c.187A>G Substitution p.Ile63Val Substitution Head - - Tao et al, 2007 12323 c.187A>G Substitution p.Ile63Val Substitution Head - - Tao et al, 2007 8657 c.216G>A Substitution p.= Silent Not affected - - Ku et al, 2005 8979 c.681A>G Substitution p.= Silent Not affected European - Hesse et al, 2004 12325 c.955G>T Substitution p.Ala319Ser Substitution 2B - - Tao et al, 2007 12326 c.955G>T Substitution p.Ala319Ser Substitution 2B - - Tao et al, 2007 12174 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12175 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12176 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12177 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12178 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12179 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12180 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12181 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12182 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12183 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12184 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12185 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12186 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12187 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12188 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12189 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12190 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12191 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12192 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12193 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12194 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12195 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12196 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12197 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12198 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12199 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12200 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12201 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12202 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12203 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12204 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12205 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12206 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12207 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12208 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12209 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12210 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12211 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12212 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12213 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12214 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12215 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12216 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12217 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12218 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12219 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12220 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12221 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12222 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12223 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12225 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12226 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12227 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12228 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12229 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12230 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12231 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12232 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12233 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12234 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12235 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12236 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12237 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12238 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12239 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12240 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12241 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12242 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12243 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12244 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12245 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12246 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12247 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12248 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12249 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12250 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12251 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12252 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12253 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12254 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12255 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12256 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12257 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12258 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12259 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12260 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12261 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12262 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12263 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12264 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12265 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12266 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12267 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12268 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12269 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12270 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12271 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12272 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12273 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12274 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12275 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12276 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12277 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12278 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12279 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12280 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12281 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12282 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12283 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12284 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12285 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12286 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12287 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12288 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12289 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12290 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12291 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12292 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12293 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12294 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12295 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12296 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12297 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12298 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12299 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12300 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12301 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12302 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12303 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12304 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12305 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12306 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12307 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12308 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12309 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12310 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12311 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12312 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12313 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12314 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12315 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12316 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12317 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 12318 c.1022G>A Substitution p.Arg341His Substitution 2B - - Tao et al, 2007 8658 c.1128G>A Substitution p.= Silent Not affected - - Ku et al, 2005 Back to top