Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:01:12 * 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 12q11-q13 Chromosome Strand - Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 51332226 : AGCCTGTGAC TTTCCTCCCT GGACAAAGGC ATCATGAGTT GTCAGATCTC : 51332177 -33 : AGCCTGTGAC TTTCCTCCCT GGACAAAGGC ATCATGAGTT GTCAGATCTC : 17 1 : M S C Q I S : 6 51332176 : TTGCAAATCT CGAGGAAGAG GAGGAGGTGG AGGAGGATTC CGGGGCTTCA : 51332127 18 : TTGCAAATCT CGAGGAAGAG GAGGAGGTGG AGGAGGATTC CGGGGCTTCA : 67 7 : C K S R G R G G G G G G F R G F : 22 51332126 : GCAGCGGCTC AGCTGTGGTG TCTGGTGGAA GCCGGAGATC AACTTCCAGC : 51332077 68 : GCAGCGGCTC AGCTGTGGTG TCTGGTGGAA GCCGGAGATC AACTTCCAGC : 117 23 : S S G S A V V S G G S R R S T S S : 39 51332076 : TTCTCCTGCT TGAGCCGCCA TGGTGGTGGT GGCGGGGGCT TCGGTGGAGG : 51332027 118 : TTCTCCTGCT TGAGCCGCCA TGGTGGTGGT GGCGGGGGCT TCGGTGGAGG : 167 40 : F S C L S R H G G G G G G F G G G : 56 51332026 : CGGCTTTGGC AGTCGGAGTC TTGTTGGCCT TGGAGGGACC AAGAGCATCT : 51331977 168 : CGGCTTTGGC AGTCGGAGTC TTGTTGGCCT TGGAGGGACC AAGAGCATCT : 217 57 : G F G S R S L V G L G G T K S I : 72 51331976 : CCATTAGTGT GGCTGGAGGA GGTGGTGGCT TTGGCGCCGC TGGTGGATTT : 51331927 218 : CCATTAGTGT GGCTGGAGGA GGTGGTGGCT TTGGCGCCGC TGGTGGATTT : 267 73 : S I S V A G G G G G F G A A G G F : 89 51331926 : GGTGGCAGAG GAGGTGGTTT TGGAGGCGGC AGCAGCTTTG GAGGTGGCAG : 51331877 268 : GGTGGCAGAG GAGGTGGTTT TGGAGGCGGC AGCAGCTTTG GAGGTGGCAG : 317 90 : G G R G G G F G G G S S F G G G S : 106 51331876 : CGGCTTCAGT GGTGGTGGTT TCGGTGGAGG CGGCTTTGGT GGAGGCCGCT : 51331827 318 : CGGCTTCAGT GGTGGTGGTT TCGGTGGAGG CGGCTTTGGT GGAGGCCGCT : 367 107 : G F S G G G F G G G G F G G G R : 122 51331826 : TTGGAGGTTT TGGGGGCCCT GGTGGTGTTG GAGGTTTAGG GGGTCCTGGT : 51331777 368 : TTGGAGGTTT TGGGGGCCCT GGTGGTGTTG GAGGTTTAGG GGGTCCTGGT : 417 123 : F G G F G G P G G V G G L G G P G : 139 51331776 : GGCTTTGGGC CTGGAGGATA CCCTGGTGGC ATCCACGAAG TCTCTGTCAA : 51331727 418 : GGCTTTGGGC CTGGAGGATA CCCTGGTGGC ATCCACGAAG TCTCTGTCAA : 467 140 : G F G P G G Y P G G I H E V S V N : 156 51331726 : CCAGAGCCTC CTGCAGCCTC TCAACGTGAA AGTTGACCCA GAGATCCAGA : 51331677 468 : CCAGAGCCTC CTGCAGCCTC TCAACGTGAA AGTTGACCCA GAGATCCAGA : 517 157 : Q S L L Q P L N V K V D P E I Q : 172 VARIANTS : A T A T A : VARIANTS 51331676 : ATGTGAAGGC CCAAGAGCGT GAGCAGATCA AAACTCTCAA CAACAAATTT : 51331627 518 : ATGTGAAGGC CCAAGAGCGT GAGCAGATCA AAACTCTCAA CAACAAATTT : 567 173 : N V K A Q E R E Q I K T L N N K F : 189 VARIANTS : K P N K : VARIANTS VARIANTS : Y : VARIANTS 51331626 : GCCTCCTTCA TTGACAAGGT GACTCTGGAG AAGACGGCTC CCACTGATGC : 51331577 568 : GCCTCCTTCA TTGACAAG : 585 190 : A S F I D K : 195 51331576 : TCAGGCCACT TCACTTCCAG AGCCAACCAA AAAGAAAATG GCACAGATTT : 51331527 51331526 : GTATTTCTTA GGAGCCAGTG GTGTACCGCA GTAGCCTGGG TCATTTGCGG : 51331477 51331476 : TTTCCAGATG GAAAAGACGC CAGCTTTGTG GGTTACATTT CCCATAACAG : 51331427 51331426 : CCTGCACTTA GGAAGCATTT GTCCCTTTGA CCTTATTGTT ACAGTCCATA : 51331377 51331376 : TAAATAATAT TTATGGAAAA TTCTGAAAAC CATAAAAAAT GGATATAGGC : 51331327 51331326 : AAGTATTGAA CTGATCCTTG GGACAGGCCA CTGGAGCAGC AGGTTTTGGA : 51331277 51331276 : AGCCATCGTC TTCTGAGATA GTGTTTCCTT CCTTAGCAGT GATTACTAAA : 51331227 51331226 : CTCTGGGAAG CTGAACCTGA AATATCTGCT TGGGAATGCA GGAAATTCCT : 51331177 51331176 : GCCTTCAAGA GAAGCGTTCT CAGTTTTGTG ATCCATAAAG TCTTTATTGG : 51331127 51331126 : TGTCACTTCG GAGTGTTACT GGCTTTTCTC CTATTTCAAG GCAGACGAAC : 51331077 51331076 : CTGTCTTGGT TTATCTGCCT TGAAATAGGC AGGGATTTAC AAGGCTCTTA : 51331027 51331026 : AAAATCAGGC TGAGGAGCCC TGCCCTCTGG GACTCTCATA CTCAGCACCC : 51330977 51330976 : TTGCGAGCAG TGCCAGCAGA TGGCTGCTTT CGGTTTTCCC CAGAATTTAT : 51330927 51330926 : GGGATCTTGG CTGGAAATTC AACCAGGATG CGGGGAGGGA AATGGTCTAG : 51330877 51330876 : AGTATTGGGA GCAGCTGCAA ACAAACCAGT GAGCAGTGAA GCAGCAAAGA : 51330827 51330826 : GTCTCCTCTG CGTGGAGAGA GCCGGATGTA GCATTAGGAG TCTGTGGGAC : 51330777 51330776 : TTTCCAGGGG CGAAAGCAGG GAGCTCAGAA GCTCTGCCAG TCATGACTCG : 51330727 51330726 : GCATCCAGCC TCAGACACTT CTCGAGGTCC TGAAGCAGCA CCTGAGCTGC : 51330677 51330676 : CCCTGGCCAG CGTGGCTTGC TTGGTGTGAA GGATGATCTA GAACTCATGT : 51330627 51330626 : GCTCTCCTTC TGGTCATGGC AGGTGCGGTT CTTGGAGCAG CAGAACCAGG : 51330577 586 : GTGCGGTT CTTGGAGCAG CAGAACCAGG : 613 196 : V R F L E Q Q N Q : 204 51330576 : TGTTACAGAC CAAATGGGAG CTGCTACAAC AAATGAATGT TGGCACCCGC : 51330527 614 : TGTTACAGAC CAAATGGGAG CTGCTACAAC AAATGAATGT TGGCACCCGC : 663 205 : V L Q T K W E L L Q Q M N V G T R : 221 51330526 : CCCATCAACC TGGAGCCCAT CTTCCAGGGG TATATCGACA GCCTCAAGAG : 51330477 664 : CCCATCAACC TGGAGCCCAT CTTCCAGGGG TATATCGACA GCCTCAAGAG : 713 222 : P I N L E P I F Q G Y I D S L K R : 238 51330476 : ATATCTGGAT GGGCTCACTG CAGAAAGAAC ATCACAGAAT TCAGAGCTGA : 51330427 714 : ATATCTGGAT GGGCTCACTG CAGAAAGAAC ATCACAGAAT TCAGAGCTGA : 763 239 : Y L D G L T A E R T S Q N S E L : 254 51330426 : ATAACATGCA GGATCTTGTG GAGGATTATA AGAAGAAGTA GGTGGCAGAG : 51330377 764 : ATAACATGCA GGATCTTGTG GAGGATTATA AGAAGAA : 800 255 : N N M Q D L V E D Y K K K : 267 51330376 : TGAAACGCTG AGTGGAGATA AACATTGCAC TGAGCCATTT GATCACTCCC : 51330327 51330326 : TGGAAAGCCA TTCATCTCCC AGTTGCATTT GTGGTGGTAA TGGGGAGAGG : 51330277 51330276 : CATATGTATC TTTGTTGATT ATTTGTGAGG AAGACAGTGA GACTTTAGAG : 51330227 51330226 : ATCATTTTTG TCTTTTGTAT GTTTGAGAGT TAGTTTATAA AAATATATCT : 51330177 51330176 : TTAGTTTGGA AATCTTAGTT TCAATTTAGA TATTTAAAAA GTGTGTAATA : 51330127 51330126 : TTCCCAGAGA ATGGGGCATT TGGGGTGAAT CCAGTATAAA AGGAAAAGAA : 51330077 51330076 : AAAAAATGAA GGGGAACTAA TCTAACTGCT GTAACATCTG TGTCCCAATA : 51330027 51330026 : GGTATGAGGA TGAAATCAAT AAGCGCACAG CTGCTGAGAA TGATTTTGTG : 51329977 801 : GTATGAGGA TGAAATCAAT AAGCGCACAG CTGCTGAGAA TGATTTTGTG : 849 268 : Y E D E I N K R T A A E N D F V : 283 51329976 : ACGCTTAAAA AGGTGAGCGA GAGAATGTCT TGGCTGGGGG TGGGGATAGG : 51329927 850 : ACGCTTAAAA AG : 861 284 : T L K K : 287 51329926 : AGTGCTTCAC AGCCCCATTG TGTCTAAGCA GCCAGTTTGG AAATCAACTG : 51329877 51329876 : TGAGTGCAAA AGCAGCAGCC AGAGAAAGGA GTGAGACCCA TGGCACATTC : 51329827 51329826 : TCTTGCAAAC AAAATTGTCT CTGTAGGTCA AGCTTCTGGA TACAGTTTTC : 51329777 51329776 : AAAGCTGTTC TGCATTTTTG GTAGAGTGCT TCCCAGTAGT AACCCACTTA : 51329727 51329726 : AAGCCTCTAC TGAATCATGA TAAATGCAAA CACAAAAATC TCTTTGTATT : 51329677 51329676 : CTCCTTCTAA AGAGCTGAGG AAGGAATGGG ACTTCCCTTA GAATGCCTGC : 51329627 51329626 : TTAAAGTTGC TGTTGGTTGT GCTGACAAAG GTTTGAGGTT GTAGGCCAAA : 51329577 51329576 : AGCAAGGGTT CTCCTGCTGG GTCCTGCAGG GCCTTTGGTG TATATTCTGG : 51329527 51329526 : GGAAATTTCG GAGAGGTGAG ATGGACAGAC GGGATGAGAG AGCTGAGGAC : 51329477 51329476 : TGTGGAAACC CACAAAGAAC ATCGTATCCT GTTGTAGAAA CACACAGTGT : 51329427 51329426 : CTCAAGCAGG AGAGAGGGGC TGGTTGGCAA AGCTTGGTCA TCTCGAGGCT : 51329377 51329376 : CTGATGGTCC TGAGGGCTGT GAGCCATGGA CGTAGGCATG AAGTCCCTGG : 51329327 51329326 : CAGAGGTGTA TGGTAAACTG CACGACAAAA GAAGTCCCAT GGGGACAGGG : 51329277 51329276 : ATCAGGTTGG GGAGCCTGGG ATTTTAGAGA GGAGCCAGCA GGGACTGAGT : 51329227 51329226 : AGAGGGGAGT GGCAGAGAGA GGAAGAGGCC TGTACAGGGA ACCATACACC : 51329177 51329176 : AGAGGCCTCA ACCTTTCTTG CAGGACGTGG ACAATGCCTA CATGATAAAG : 51329127 862 : GACGTGG ACAATGCCTA CATGATAAAG : 888 288 : D V D N A Y M I K : 296 51329126 : GTGGAGTTGC AGTCCAAGGT GGACCTGCTG AACCAGGAAA TTGAGTTTCT : 51329077 889 : GTGGAGTTGC AGTCCAAGGT GGACCTGCTG AACCAGGAAA TTGAGTTTCT : 938 297 : V E L Q S K V D L L N Q E I E F L : 313 51329076 : GAAAGTTCTC TATGATGCGG TAAGGAGGCT GCTCCGGGAC AGTCCCTTAC : 51329027 939 : GAAAGTTCTC TATGATGCG : 957 314 : K V L Y D A : 319 51329026 : TTCCCACCCT TCTCACCAAA TGAAAGTCCT TTCTGCTTGG TGAAAAAGTG : 51328977 51328976 : GCAGAAGTGG GGTTTATGGA CCAGCTGACT TCAATCTGCC ATCATTCCAG : 51328927 51328926 : GCCACTGGGG GGGCTTTCAT AGCATAGGTC TTGTGGGTGA GGAATTTTCT : 51328877 51328876 : CCTCCGATGT TATGGGAATA AGGTTCAGGA AACACCAGGA CAGCTTCCCC : 51328827 51328826 : TCCCTCCATT CCCCAGATGT CCATTTCCCC TGGGGAAGAG ACAAGCCCTG : 51328777 51328776 : TGCCCATTCC TGTGCCTACT GTACTTCAGA GGTCAAAATG CATTTGTCTC : 51328727 51328726 : CTATCCCCCT CCCCAACCCA AGGGTGCACA GATGATTTCT GAAACAGGAA : 51328677 51328676 : GTCCATTTAA GGTATTTGCC ATGGACAAGC TTCTGTCTGG GGGCACTTAC : 51328627 51328626 : CATAACTGGC TTAAGTGCTG AATGTTAACT AGGAGGCTCA GAAATACAGG : 51328577 51328576 : TGCCTCTCAC TACAATTCTC AGGACAACCT TGGGAGAGGC CCAGGAGTAG : 51328527 51328526 : ACGGTTACAT GATTTTCATC CCACCTAGTG TATGCTTAGT CTGAGGGTCT : 51328477 51328476 : GCGTTTCCCT TATGCTGGGA GACAGAGGCC TCCTGTCTGC CTGTAGCTAT : 51328427 51328426 : GGCAGGATGT CATGACCAGA CCTTCCTGTG TGTTGTAGGA GATATCCCAG : 51328377 958 : GA GATATCCCAG : 969 320 : E I S Q : 323 51328376 : ATACATCAGA GTGTCACTGA CACCAACGTC ATCCTCTCCA TGGACAACAG : 51328327 970 : ATACATCAGA GTGTCACTGA CACCAACGTC ATCCTCTCCA TGGACAACAG : 1019 324 : I H Q S V T D T N V I L S M D N S : 340 51328326 : CCGCAACCTG GACTTGGATA GCATCATCGC CGAGGTCAAG GCCCAGTATG : 51328277 1020 : CCGCAACCTG GACTTGGATA GCATCATCGC CGAGGTCAAG GCCCAGTATG : 1069 341 : R N L D L D S I I A E V K A Q Y : 356 51328276 : AGGAGATCGC CCAGAGGAGC AAGGAAGAAG CGGAGGCCCT GTACCACAGC : 51328227 1070 : AGGAGATCGC CCAGAGGAGC AAGGAAGAAG CGGAGGCCCT GTACCACAGC : 1119 357 : E E I A Q R S K E E A E A L Y H S : 373 51328226 : AAGGCAAGTA GAGGGAATGT AGGAAGAGCC ACAGCTCCCT GCCATGAGCT : 51328177 1120 : AAG : 1122 374 : K : 374 51328176 : GGGTTGCACC CCCAGCTGGA AAGTGTACAG TAAGGTTATT GGTTTTTTGT : 51328127 51328126 : TTAATGGTAG TTGGGCACCA TTCCCAAGAA AGGATGTTGA GAATGGCACC : 51328077 51328076 : AAGTCCTTTT GGGCATGTGA GACAGTCCCT ACCTCTCATG AATGCAGCCA : 51328027 51328026 : TGACATTTAG CTGGGTTGAC CCTCCCTGGA CCAGTAACCA GCTCTCCTTC : 51327977 51327976 : ACTCCAGTCA GTCTGGAATG TGAGCCAGGC TGGAACTTCC TTGCAAACTG : 51327927 51327926 : TCCTCTTCTC CCCATATCAG TATGAGGAGC TCCAGGTGAC TGTCGGGAGA : 51327877 1123 : TATGAGGAGC TCCAGGTGAC TGTCGGGAGA : 1152 375 : Y E E L Q V T V G R : 384 51327876 : CATGGAGACA GCCTGAAAGA GATCAAGATA GAGATCAGCG AGCTGAACCG : 51327827 1153 : CATGGAGACA GCCTGAAAGA GATCAAGATA GAGATCAGCG AGCTGAACCG : 1202 385 : H G D S L K E I K I E I S E L N R : 401 51327826 : CGTGATCCAG AGGCTGCAGG GGGAGATCGC ACATGTGAAG AAGCAGGTGA : 51327777 1203 : CGTGATCCAG AGGCTGCAGG GGGAGATCGC ACATGTGAAG AAGCAG : 1248 402 : V I Q R L Q G E I A H V K K Q : 416 51327776 : GGCCCAGCCC TGTCCAGCGA GGGGCGGGAG GTTGTCTCTG GGTGTGCGTG : 51327727 51327726 : AGAGTGTGGT TGTGTGTGAG TGTGCATGTG AGAGATGAGA GACACTGAGA : 51327677 51327676 : TATTGCACTC TAGCATGTAT CGATCCCAAA TTCCCCAGCT TAACATAATT : 51327627 51327626 : TATGGCTTAT TATAACAATT CTTAGAGTGC TCTAATAGAC ATTCCAAAGT : 51327577 51327576 : AAGGATTATC GAAGGGAAAG AATTGTGCTC ACTTGTTTAT ATGAGGAAAA : 51327527 51327526 : GGGAGTCATA ACAAATAGAG CAAACGTTAG TTTGATTGAT TTGCTGCAGA : 51327477 51327476 : TTGCCGATGG AGCTTCCCGT TTGTGCTCAG CACAGGCCCT GAGCACCAGC : 51327427 51327426 : CGACTGGTTT CATAGAGGGG CAGTGAGTAT TGAGGGCAGC TGGCCTGGGG : 51327377 51327376 : CTGGACGTTA GCTTTGGAAT AGAAAAGGTA GAGGCAGAGA GTGGATTCCA : 51327327 51327326 : TCAGCAGCAG AAGCTTTGCC AAGCAGACCA TTTCAAATGT TTTCATTTCC : 51327277 51327276 : ATCTGTAAAA TGGGATCATG ATTCAGGCCC TGTGATGTGA GGATCAAAGG : 51327227 51327226 : GCACTATGGG GAAAGCCAAA GGGTGTCATC AACGGTGACA TGGGAAGAAG : 51327177 51327176 : ATGTGCCAGA GACAGCGGCA AGTCTTAGCA CAGTTGTTTG CGACTAAACT : 51327127 51327126 : CCAGAGGGGA CCTAACACTC CCAGGGCCAG TGGTTCTGGC TTCCTGCACT : 51327077 51327076 : TCGAACACCT CTGCTCTCTG TCCGCCTCCG TCAGGCAGAA TCCATTCTCT : 51327027 51327026 : GTCCTTCTGT CATAGTGTAA GAATGTGCAA GATGCCATCG CAGATGCCGA : 51326977 1249 : TGTAA GAATGTGCAA GATGCCATCG CAGATGCCGA : 1283 417 : C K N V Q D A I A D A E : 428 51326976 : GCAGCGTGGG GAGCATGCCC TCAAGGATGC CAGGAACAAG TTGAATGACC : 51326927 1284 : GCAGCGTGGG GAGCATGCCC TCAAGGATGC CAGGAACAAG TTGAATGACC : 1333 429 : Q R G E H A L K D A R N K L N D : 444 51326926 : TGGAGGAGGC CCTGCAGCAG GCCAAGGAGG ACTTGGCGCG GCTGCTGCGT : 51326877 1334 : TGGAGGAGGC CCTGCAGCAG GCCAAGGAGG ACTTGGCGCG GCTGCTGCGT : 1383 445 : L E E A L Q Q A K E D L A R L L R : 461 VARIANTS : AT : VARIANTS 51326876 : GACTACCAGG AGCTGATGAA CGTGAAGCTG GCCCTAGATG TGGAGATCGC : 51326827 1384 : GACTACCAGG AGCTGATGAA CGTGAAGCTG GCCCTAGATG TGGAGATCGC : 1433 462 : D Y Q E L M N V K L A L D V E I A : 478 VARIANTS : K : VARIANTS VARIANTS : V : VARIANTS VARIANTS : C A C A TA : VARIANTS 51326826 : CACCTACCGC AAACTGCTGG AGGGCGAGGA GTGCAGGTGA GGGCACTGGG : 51326777 1434 : CACCTACCGC AAACTGCTGG AGGGCGAGGA GTGCAG : 1469 479 : T Y R K L L E G E E C R : 490 VARIANTS : P Q P K K : VARIANTS VARIANTS : D : VARIANTS 51326776 : AAGGGAGAAG GGGACCCTGG CCCTTCCTCT CATCTCTCCC AGAGCCAGGG : 51326727 51326726 : CTGGAGGCAA AGACAGGGAA AGCAGAGAAT GGGGCAGGCC CTCCTGACAA : 51326677 51326676 : CTGAGAACTG ACATTCTCTG TGTTCCCCAA GCAGAAACTC AGGACATAAA : 51326627 51326626 : GCATGATTGG AGAGTTACAC ATTTATCAAC ATGAAATGAT GCATAAGGCA : 51326577 51326576 : CATTAAATTA AACTAAGCAG TAAGTTAAAC ATCCTGGTCT TTTCTGAAAG : 51326527 51326526 : AGAAAACAAA ATCATGGGAA AACAGGTTAG TCCTAGACAG TCTGAAACTT : 51326477 51326476 : TGGTCTCTAG GTCCATAGGG TGAGTGGCTT CTGTGCCCTC CACCGGGTGA : 51326427 51326426 : CCCAGAATGG GGGAGATGAT GTCTCGGAAT GTGCTGACTG GTGGGGACGT : 51326377 51326376 : GCTGACCGGA GCAGGTGCCA GCCCCAGTTC TTTGCAGGTT TCTGGAGTGA : 51326327 51326326 : CAAATGGAAC CATTTGCTAA CTTTCAAAGA GGCACCCTTT GCTTCCTCTG : 51326277 51326276 : TAGTCTGAGA CCTTTGTCCG TATTATCAGC ATCTTGGGTG ACTTAATCTG : 51326227 51326226 : GCTGAAGCAA TTGGAAGGGG AAAAGCTACC CCAGGCCATC AGCAAGCCAG : 51326177 51326176 : CATGACAAAC AGGGAGTGGC TTTCTTCAGG AGGTTGCTCT GTCCCTGTCT : 51326127 51326126 : AGAGGCAATG CCTCCTATGC CCAGCTTGTA AGAGGAAGTG GGAAAGTTTT : 51326077 51326076 : CAGTTGAAGC TGAAGAGGGT GGGAAGAAGA GAGGAATGGG GAGGCTCTAC : 51326027 51326026 : AGAGTCACAG TTCTTTCTGA ACTGAATGTT CACAGGCAGC CTCATTGTAT : 51325977 51325976 : AATTTCTGAT GTGGCATGGA TTCTGAATAA CAGACTCTCC AAGATGGATT : 51325927 51325926 : TAAATACACA AATGGGTTGC AAAGTAGGAA GTGAATTTGC TTTTCAGTGA : 51325877 51325876 : CCTTGGATCA ACCACGCAAC TGTTCATTTT TTATCAGAGC AAAAATTGAG : 51325827 51325826 : AGGGATTGAC ATGCAAGGTT GTGCATAAAT GGAAGGGGGT CTGTCGTCAT : 51325777 51325776 : TGTGTGACCT GGCAGCATAG AAGAAAGTGG GGTGTGTAAG CCCTGGTGGC : 51325727 51325726 : TGCTTAGAGA GGCTAAACTG CACATTTGCG GGTGGAAGTG GTAAAACAAC : 51325677 51325676 : ATGCATACAG AACCTAAGTG TTCCACCACA ACTTGTTTTT TCTCTCTCCC : 51325627 51325626 : TTACAGGATG TCTGGAGACC TCAGCAGCAA TGTGACTGTG TGTAAGTAAT : 51325577 1470 : GATG TCTGGAGACC TCAGCAGCAA TGTGACTGTG T : 1504 491 : M S G D L S S N V T V : 501 51325576 : GGGGTGTGGT CCTGTTCCAT GGGGTGTTGT GTCAGGTGGA GGCAGGGAGA : 51325527 51325526 : GGCAGTCATA ATCTCTGTGG TAACACCACC TCTCTCTGCA GCTGTGACAA : 51325477 1505 : CTGTGACAA : 1513 502 : S V T : 504 51325476 : GCAGCACCAT TTCATCAAAT GTGGCATCCA AGGCTGCCTT TGGAGGTTCT : 51325427 1514 : GCAGCACCAT TTCATCAAAT GTGGCATCCA AGGCTGCCTT TGGAGGTTCT : 1563 505 : S S T I S S N V A S K A A F G G S : 521 51325426 : GGAGGTAGAG GGTCCAGTTC CGGAGGAGGA TACAGCTCTG GAAGCAGCAG : 51325377 1564 : GGAGGTAGAG GGTCCAGTTC CGGAGGAGGA TACAGCTCTG GAAGCAGCAG : 1613 522 : G G R G S S S G G G Y S S G S S S : 538 51325376 : TTATGGCTCT GGAGGCCGAC AGTCTGGCTC CAGAGGCGGT AGTGGAGGAG : 51325327 1614 : TTATGGCTCT GGAGGCCGAC AGTCTGGCTC CAGAGGCGGT AGTGGAGGAG : 1663 539 : Y G S G G R Q S G S R G G S G G : 554 51325326 : GAGGTTCTAT CTCTGGAGGA GGATATGGCT CTGGCGGTGG TTCTGGAGGA : 51325277 1664 : GAGGTTCTAT CTCTGGAGGA GGATATGGCT CTGGCGGTGG TTCTGGAGGA : 1713 555 : G G S I S G G G Y G S G G G S G G : 571 51325276 : AGATACGGAT CTGGTGGTGG CTCTAAGGGA GGGTCCATCT CTGGAGGAGG : 51325227 1714 : AGATACGGAT CTGGTGGTGG CTCTAAGGGA GGGTCCATCT CTGGAGGAGG : 1763 572 : R Y G S G G G S K G G S I S G G G : 588 51325226 : ATATGGCTCT GGAGGTGGAA AACACAGCTC TGGAGGTGGC TCTAGAGGAG : 51325177 1764 : ATATGGCTCT GGAGGTGGAA AACACAGCTC TGGAGGTGGC TCTAGAGGAG : 1813 589 : Y G S G G G K H S S G G G S R G : 604 51325176 : GCTCCAGCTC TGGAGGAGGA TATGGCTCTG GAGGTGGGGG TTCTAGCTCT : 51325127 1814 : GCTCCAGCTC TGGAGGAGGA TATGGCTCTG GAGGTGGGGG TTCTAGCTCT : 1863 605 : G S S S G G G Y G S G G G G S S S : 621 51325126 : GTAAAGGGTA GCTCAGGTGA AGCTTTTGGT TCCAGCGTGA CCTTCTCTTT : 51325077 1864 : GTAAAGGGTA GCTCAGGTGA AGCTTTTGGT TCCAGCGTGA CCTTCTCTTT : 1913 622 : V K G S S G E A F G S S V T F S F : 638 51325076 : TAGATAAAGA TGAGCCCCCA CCACCACCGA CTCTCCCAAC CCAGACTCTC : 51325027 1914 : TAGATAAAGA TGAGCCCCCA CCACCACCGA CTCTCCCAAC CCAGACTCTC : *43 639 : R : 639 51325026 : CCACTCCAGA ATGTAGAAGC CTGTCTCTGT ACCTCTAACT GGCAGCAAGT : 51324977 *44 : CCACTCCAGA ATGTAGAAGC CTGTCTCTGT ACCTCTAACT GGCAGCAAGT : *93 51324976 : TAAATTTTTG TCATTTATCT CTGATGGCAC TTTGAGGGAA AAGAATGTCC : 51324927 *94 : TAAATTTTTG TCATTTATCT CTGATGGCAC TTTGAGGGAA AAGAATGTCC : *143 51324926 : ACATACAGTT TTTGAAAGAT CTTCTCTCCA AACCAGTTAG TTAGAGCCAG : 51324877 *144 : ACATACAGTT TTTGAAAGAT CTTCTCTCCA AACCAGTTAG TTAGAGCCAG : *193 51324876 : TGACGCCTCT GTGTTCTGGG GCGGAATCTG TGCTGTCTAG GTTTGTGCTT : 51324827 *194 : TGACGCCTCT GTGTTCTGGG GCGGAATCTG TGCTGTCTAG GTTTGTGCTT : *243 51324826 : CTAGCCATGC CCATTCCCGC CCCCACCATG CCTCTTTGCA TTGCCCATTT : 51324777 *244 : CTAGCCATGC CCATTCCCGC CCCCACCATG CCTCTTTGCA TTGCCCATTT : *293 51324776 : TCCAGATGTG TATTCTGTTG AGGACCCAGG CCCATCCAGG GATTTCATCT : 51324727 *294 : TCCAGATGTG TATTCTGTTG AGGACCCAGG CCCATCCAGG GATTTCATCT : *343 51324726 : CTAAGCCTGG CAGTGCTGGG GGGAAATGTG TTTCTGTGTA TATAGCTCCT : 51324677 *344 : CTAAGCCTGG CAGTGCTGGG GGGAAATGTG TTTCTGTGTA TATAGCTCCT : *393 51324676 : CTTGTCCACT CTGCTTTCGG AAGTGCTGTG GTCTGGGGGT CTTCATAATA : 51324627 *394 : CTTGTCCACT CTGCTTTCGG AAGTGCTGTG GTCTGGGGGT CTTCATAATA : *443 51324626 : AACCTCATTT GCAATTCA-- ---------- ---------- ---------- : 51324609 *444 : AACCTCATTT GCAATTCAAA AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA : *493 51324609 : ---------- --- : 51324609 *494 : AAAAAAAAAA AAA : *506 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:01:12 RefSeq ID NM_000423.2 GI 47132619 Length 2459 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -33 AGCCTGTGAC TTTCCTCCCT GGACAAAGGC ATCATGAGTT GTCAGATCTC 17 18 TTGCAAATCT CGAGGAAGAG GAGGAGGTGG AGGAGGATTC CGGGGCTTCA 67 68 GCAGCGGCTC AGCTGTGGTG TCTGGTGGAA GCCGGAGATC AACTTCCAGC 117 118 TTCTCCTGCT TGAGCCGCCA TGGTGGTGGT GGCGGGGGCT TCGGTGGAGG 167 168 CGGCTTTGGC AGTCGGAGTC TTGTTGGCCT TGGAGGGACC AAGAGCATCT 217 218 CCATTAGTGT GGCTGGAGGA GGTGGTGGCT TTGGCGCCGC TGGTGGATTT 267 268 GGTGGCAGAG GAGGTGGTTT TGGAGGCGGC AGCAGCTTTG GAGGTGGCAG 317 318 CGGCTTCAGT GGTGGTGGTT TCGGTGGAGG CGGCTTTGGT GGAGGCCGCT 367 368 TTGGAGGTTT TGGGGGCCCT GGTGGTGTTG GAGGTTTAGG GGGTCCTGGT 417 418 GGCTTTGGGC CTGGAGGATA CCCTGGTGGC ATCCACGAAG TCTCTGTCAA 467 468 CCAGAGCCTC CTGCAGCCTC TCAACGTGAA AGTTGACCCA GAGATCCAGA 517 518 ATGTGAAGGC CCAAGAGCGT GAGCAGATCA AAACTCTCAA CAACAAATTT 567 568 GCCTCCTTCA TTGACAAGGT GCGGTTCTTG GAGCAGCAGA ACCAGGTGTT 617 618 ACAGACCAAA TGGGAGCTGC TACAACAAAT GAATGTTGGC ACCCGCCCCA 667 668 TCAACCTGGA GCCCATCTTC CAGGGGTATA TCGACAGCCT CAAGAGATAT 717 718 CTGGATGGGC TCACTGCAGA AAGAACATCA CAGAATTCAG AGCTGAATAA 767 768 CATGCAGGAT CTTGTGGAGG ATTATAAGAA GAAGTATGAG GATGAAATCA 817 818 ATAAGCGCAC AGCTGCTGAG AATGATTTTG TGACGCTTAA AAAGGACGTG 867 868 GACAATGCCT ACATGATAAA GGTGGAGTTG CAGTCCAAGG TGGACCTGCT 917 918 GAACCAGGAA ATTGAGTTTC TGAAAGTTCT CTATGATGCG GAGATATCCC 967 968 AGATACATCA GAGTGTCACT GACACCAACG TCATCCTCTC CATGGACAAC 1017 1018 AGCCGCAACC TGGACTTGGA TAGCATCATC GCCGAGGTCA AGGCCCAGTA 1067 1068 TGAGGAGATC GCCCAGAGGA GCAAGGAAGA AGCGGAGGCC CTGTACCACA 1117 1118 GCAAGTATGA GGAGCTCCAG GTGACTGTCG GGAGACATGG AGACAGCCTG 1167 1168 AAAGAGATCA AGATAGAGAT CAGCGAGCTG AACCGCGTGA TCCAGAGGCT 1217 1218 GCAGGGGGAG ATCGCACATG TGAAGAAGCA GTGTAAGAAT GTGCAAGATG 1267 1268 CCATCGCAGA TGCCGAGCAG CGTGGGGAGC ATGCCCTCAA GGATGCCAGG 1317 1318 AACAAGTTGA ATGACCTGGA GGAGGCCCTG CAGCAGGCCA AGGAGGACTT 1367 1368 GGCGCGGCTG CTGCGTGACT ACCAGGAGCT GATGAACGTG AAGCTGGCCC 1417 1418 TAGATGTGGA GATCGCCACC TACCGCAAAC TGCTGGAGGG CGAGGAGTGC 1467 1468 AGGATGTCTG GAGACCTCAG CAGCAATGTG ACTGTGTCTG TGACAAGCAG 1517 1518 CACCATTTCA TCAAATGTGG CATCCAAGGC TGCCTTTGGA GGTTCTGGAG 1567 1568 GTAGAGGGTC CAGTTCCGGA GGAGGATACA GCTCTGGAAG CAGCAGTTAT 1617 1618 GGCTCTGGAG GCCGACAGTC TGGCTCCAGA GGCGGTAGTG GAGGAGGAGG 1667 1668 TTCTATCTCT GGAGGAGGAT ATGGCTCTGG CGGTGGTTCT GGAGGAAGAT 1717 1718 ACGGATCTGG TGGTGGCTCT AAGGGAGGGT CCATCTCTGG AGGAGGATAT 1767 1768 GGCTCTGGAG GTGGAAAACA CAGCTCTGGA GGTGGCTCTA GAGGAGGCTC 1817 1818 CAGCTCTGGA GGAGGATATG GCTCTGGAGG TGGGGGTTCT AGCTCTGTAA 1867 1868 AGGGTAGCTC AGGTGAAGCT TTTGGTTCCA GCGTGACCTT CTCTTTTAGA 1917 1918 TAAAGATGAG CCCCCACCAC CACCGACTCT CCCAACCCAG ACTCTCCCAC *47 *48 TCCAGAATGT AGAAGCCTGT CTCTGTACCT CTAACTGGCA GCAAGTTAAA *97 *98 TTTTTGTCAT TTATCTCTGA TGGCACTTTG AGGGAAAAGA ATGTCCACAT *147 *148 ACAGTTTTTG AAAGATCTTC TCTCCAAACC AGTTAGTTAG AGCCAGTGAC *197 *198 GCCTCTGTGT TCTGGGGCGG AATCTGTGCT GTCTAGGTTT GTGCTTCTAG *247 *248 CCATGCCCAT TCCCGCCCCC ACCATGCCTC TTTGCATTGC CCATTTTCCA *297 *298 GATGTGTATT CTGTTGAGGA CCCAGGCCCA TCCAGGGATT TCATCTCTAA *347 *348 GCCTGGCAGT GCTGGGGGGA AATGTGTTTC TGTGTATATA GCTCCTCTTG *397 *398 TCCACTCTGC TTTCGGAAGT GCTGTGGTCT GGGGGTCTTC ATAATAAACC *447 *448 TCATTTGCAA TTCAAAAAAA AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA *497 *498 AAAAAAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:01:12 RefSeq ID NP_000414.2 GI 47132620 Isoelectric Point 8.1738 Molecular Weight 65432.7 Daltons Length 639 amino acids Download File | Text Sequence 1 MSCQISCKSR GRGGGGGGFR GFSSGSAVVS GGSRRSTSSF SCLSRHGGGG 50 51 GGFGGGGFGS RSLVGLGGTK SISISVAGGG GGFGAAGGFG GRGGGFGGGS 100 101 SFGGGSGFSG GGFGGGGFGG GRFGGFGGPG GVGGLGGPGG FGPGGYPGGI 150 151 HEVSVNQSLL QPLNVKVDPE IQNVKAQERE QIKTLNNKFA SFIDKVRFLE 200 201 QQNQVLQTKW ELLQQMNVGT RPINLEPIFQ GYIDSLKRYL DGLTAERTSQ 250 251 NSELNNMQDL VEDYKKKYED EINKRTAAEN DFVTLKKDVD NAYMIKVELQ 300 301 SKVDLLNQEI EFLKVLYDAE ISQIHQSVTD TNVILSMDNS RNLDLDSIIA 350 351 EVKAQYEEIA QRSKEEAEAL YHSKYEELQV TVGRHGDSLK EIKIEISELN 400 401 RVIQRLQGEI AHVKKQCKNV QDAIADAEQR GEHALKDARN KLNDLEEALQ 450 451 QAKEDLARLL RDYQELMNVK LALDVEIATY RKLLEGEECR MSGDLSSNVT 500 501 VSVTSSTISS NVASKAAFGG SGGRGSSSGG GYSSGSSSYG SGGRQSGSRG 550 551 GSGGGGSISG GGYGSGGGSG GRYGSGGGSK GGSISGGGYG SGGGKHSSGG 600 601 GSRGGSSSGG GYGSGGGGSS SVKGSSGEAF GSSVTFSFR Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 178 1A 179 213 L1 214 225 1B 226 326 L12 327 343 2A 344 362 L2 363 370 2B 371 491 Tail 492 639 Back to top

MONOCLONAL ANTIBODIES
Information last updated on 2008-08-26 14:09:19 Clone Name Species Reported Specificity Epitope Reference 342.7.4 mouse K2 - Reichelt et al, 1997 AE2 mouse K1, K2, K10 - Dhouailly et al, 1989, Cooper and Sun, 1986 CK2E mouse K1, K2, K5 - Collin et al, 1992 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 30974. Information last updated on 2007-08-17 12:22:36 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 406228 NM_001008899.1 NP_001008899.1 Rodents Mus musculus 16681 NM_010668.2 NP_034798.1 Rodents Canis familiaris 444850 NM_001003386.1 NP_001003386.1 Mammals Pan troglodytes 738196 XM_001142798.1 XP_001142798.1 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 2007-05-08 15:59:43 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Ichthyosis bullosa of Siemens IBS #146800 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 2007-05-08 15:59:43 * 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 11774 c.532G>A Substitution p.Glu178Lys Substitution Head IBS Nishizawa et al, 2007 9494 c.542A>T Substitution p.Gln181Pro Substitution 1A IBS Kremer et al, 1994 9490 c.545T>A Substitution p.Ile182Asn Substitution 1A IBS Arin et al, 1999 9471 c.556A>T Substitution p.Asn186Tyr Substitution 1A IBS Smith et al, 1998 9514 c.558C>A Substitution p.Asn186Lys Substitution 1A IBS Whittock et al, 2001 9518 c.607A>G Substitution p.Asn192Asp Substitution 1A IBS Takizawa et al, 2000 9470 c.1426G>A Substitution p.Glu476Lys Substitution 2B IBS Smith et al, 1998 9515 c.1427A>T Substitution p.Glu476Val Substitution 2B IBS Moraru et al, 1999 9486 c.1435A>C Substitution p.Thr479Pro Substitution 2B IBS Yang et al, 1997 9456 c.1448T>A Substitution p.Leu483Gln Substitution 2B IBS Irvine et al, 2000 9497 c.1451T>C Substitution p.Leu484Pro Substitution 2B IBS Kremer et al, 1994 8968 c.1451T>C Substitution p.Leu484Pro Substitution 2B IBS Akiyama et al, 2005 9448 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS McLean et al, 1994 11301 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS McLean et al, 1994 9502 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Rothnagel et al, 1994 11302 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Rothnagel et al, 1994 11303 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Rothnagel et al, 1994 11304 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Rothnagel et al, 1994 11305 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Rothnagel et al, 1994 9495 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Kremer et al, 1994 9496 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Kremer et al, 1994 9483 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Jones et al, 1997 9475 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Yang et al, 1998 11715 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Basarab et al, 1999 9521 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Suga et al, 2000 8969 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Akiyama et al, 2005 11505 c.1459G>A Substitution p.Glu487Lys Substitution 2B IBS Akiyama et al, 2005 9507 c.1461G>T Substitution p.Glu487Asp Substitution 2B IBS Rothnagel et al, 1994 9522 c.1461G>T Substitution p.Glu487Asp Substitution 2B IBS Suga et al, 2000 9484 c.1462G>A Substitution p.Glu488Lys Substitution 2B IBS Jones et al, 1997 Back to top