Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:02:41 * 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 8p21 Chromosome Strand - Chromosome GI 51511724 Chromosome RefSeq ID NC_000008.9 VARIANTS : d : VARIANTS 24870043 : GCACACAGCC ATCCATCCTC CCCCTTCCCT CTCTCCCCTG TCCTCTCTCT : 24869994 -97 : GCACACAGCC ATCCATCCTC CCCCTTCCCT CTCTCCCCTG TCCTCTCTCT : -48 VARIANTS : d ddd : VARIANTS 24869993 : CCGGGCTCCC ACCGCCGCCG CGGGCCGGGG AGCCACCGGC CGCCACCATG : 24869944 -47 : CCGGGCTCCC ACCGCCGCCG CGGGCCGGGG AGCCACCGGC CGCCACCATG : 3 1 : M : 1 VARIANTS : A : VARIANTS VARIANTS : G : VARIANTS VARIANTS : T : VARIANTS VARIANTS : A dd A GCGCTA : VARIANTS 24869943 : AGTTCCTTCA GCTACGAGCC GTACTACTCG ACCTCCTACA AGCGGCGCTA : 24869894 4 : AGTTCCTTCA GCTACGAGCC GTACTACTCG ACCTCCTACA AGCGGCGCTA : 53 2 : S S F S Y E P Y Y S T S Y K R R Y : 18 VARIANTS : K R : VARIANTS VARIANTS : L : VARIANTS VARIANTS : R : VARIANTS VARIANTS : Q : VARIANTS VARIANTS : T : VARIANTS VARIANTS : CGTGGAG AG : VARIANTS 24869893 : CGTGGAGACG CCCCGGGTGC ACATCTCCAG CGTGCGCAGC GGCTACAGCA : 24869844 54 : CGTGGAGACG CCCCGGGTGC ACATCTCCAG CGTGCGCAGC GGCTACAGCA : 103 19 : V E T P R V H I S S V R S G Y S : 34 VARIANTS : f T : VARIANTS VARIANTS : S : VARIANTS VARIANTS : R : VARIANTS VARIANTS : T : VARIANTS 24869843 : CCGCACGCTC AGCTTACTCC AGCTACTCGG CGCCGGTGTC TTCCTCGCTG : 24869794 104 : CCGCACGCTC AGCTTACTCC AGCTACTCGG CGCCGGTGTC TTCCTCGCTG : 153 35 : T A R S A Y S S Y S A P V S S S L : 51 VARIANTS : A : VARIANTS 24869793 : TCCGTGCGCC GCAGCTACTC CTCCAGCTCT GGATCGTTGA TGCCCAGTCT : 24869744 154 : TCCGTGCGCC GCAGCTACTC CTCCAGCTCT GGATCGTTGA TGCCCAGTCT : 203 52 : S V R R S Y S S S S G S L M P S L : 68 VARIANTS : C : VARIANTS VARIANTS : A : VARIANTS 24869743 : GGAGAACCTC GACCTGAGCC AGGTAGCCGC CATCAGCAAC GACCTCAAGT : 24869694 204 : GGAGAACCTC GACCTGAGCC AGGTAGCCGC CATCAGCAAC GACCTCAAGT : 253 69 : E N L D L S Q V A A I S N D L K : 84 VARIANTS : A : VARIANTS VARIANTS : A : VARIANTS VARIANTS : A A C G : VARIANTS 24869693 : CCATCCGCAC GCAGGAGAAG GCGCAGCTCC AGGACCTCAA TGACCGCTTC : 24869644 254 : CCATCCGCAC GCAGGAGAAG GCGCAGCTCC AGGACCTCAA TGACCGCTTC : 303 85 : S I R T Q E K A Q L Q D L N D R F : 101 VARIANTS : K P S : VARIANTS 24869643 : GCCAGCTTCA TCGAGCGCGT GCACGAGCTG GAGCAGCAGA ACAAGGTCCT : 24869594 304 : GCCAGCTTCA TCGAGCGCGT GCACGAGCTG GAGCAGCAGA ACAAGGTCCT : 353 102 : A S F I E R V H E L E Q Q N K V L : 118 24869593 : GGAAGCCGAG CTGCTGGTGC TGCGCCAGAA GCACTCCGAG CCATCCCGCT : 24869544 354 : GGAAGCCGAG CTGCTGGTGC TGCGCCAGAA GCACTCCGAG CCATCCCGCT : 403 119 : E A E L L V L R Q K H S E P S R : 134 VARIANTS : T A T : VARIANTS 24869543 : TCCGGGCGCT GTACGAGCAG GAGATCCGCG ACCTGCGCCT GGCGGCGGAA : 24869494 404 : TCCGGGCGCT GTACGAGCAG GAGATCCGCG ACCTGCGCCT GGCGGCGGAA : 453 135 : F R A L Y E Q E I R D L R L A A E : 151 VARIANTS : X V : VARIANTS 24869493 : GATGCCACCA ACGAGAAGCA GGCGCTCCAG GGCGAGCGCG AAGGGCTGGA : 24869444 454 : GATGCCACCA ACGAGAAGCA GGCGCTCCAG GGCGAGCGCG AAGGGCTGGA : 503 152 : D A T N E K Q A L Q G E R E G L E : 168 24869443 : GGAGACCCTG CGCAACCTGC AGGCGCGCTA TGAAGAGGAG GTGCTGAGCC : 24869394 504 : GGAGACCCTG CGCAACCTGC AGGCGCGCTA TGAAGAGGAG GTGCTGAGCC : 553 169 : E T L R N L Q A R Y E E E V L S : 184 24869393 : GCGAGGACGC CGAGGGCCGG CTGATGGAAG CGCGCAAAGG CGCCGACGAG : 24869344 554 : GCGAGGACGC CGAGGGCCGG CTGATGGAAG CGCGCAAAGG CGCCGACGAG : 603 185 : R E D A E G R L M E A R K G A D E : 201 VARIANTS : G : VARIANTS 24869343 : GCGGCGCTCG CTCGCGCCGA GCTCGAGAAG CGCATCGACA GCTTGATGGA : 24869294 604 : GCGGCGCTCG CTCGCGCCGA GCTCGAGAAG CGCATCGACA GCTTGATGGA : 653 202 : A A L A R A E L E K R I D S L M D : 218 VARIANTS : M : VARIANTS VARIANTS : T : VARIANTS 24869293 : CGAAATCTCT TTTCTGAAGA AAGTGCACGA AGAGGAGATC GCCGAACTGC : 24869244 654 : CGAAATCTCT TTTCTGAAGA AAGTGCACGA AGAGGAGATC GCCGAACTGC : 703 219 : E I S F L K K V H E E E I A E L : 234 VARIANTS : T : VARIANTS 24869243 : AGGCGCAGAT CCAGTACGCG CAGATCTCCG TGGAGATGGA CGTGACCAAG : 24869194 704 : AGGCGCAGAT CCAGTACGCG CAGATCTCCG TGGAGATGGA CGTGACCAAG : 753 235 : Q A Q I Q Y A Q I S V E M D V T K : 251 VARIANTS : C : VARIANTS 24869193 : CCCGACCTTT CCGCCGCGCT CAAGGACATC CGCGCGCAGT ACGAGAAGCT : 24869144 754 : CCCGACCTTT CCGCCGCGCT CAAGGACATC CGCGCGCAGT ACGAGAAGCT : 803 252 : P D L S A A L K D I R A Q Y E K L : 268 VARIANTS : P : VARIANTS 24869143 : GGCCGCCAAG AACATGCAGA ACGCTGAGGA ATGGTTCAAG AGCCGCTTCA : 24869094 804 : GGCCGCCAAG AACATGCAGA ACGCTGAGGA ATGGTTCAAG AGCCGCTTCA : 853 269 : A A K N M Q N A E E W F K S R F : 284 24869093 : CCGTGCTGAC CGAGAGCGCC GCCAAGAACA CCGACGCCGT GCGCGCCGCC : 24869044 854 : CCGTGCTGAC CGAGAGCGCC GCCAAGAACA CCGACGCCGT GCGCGCCGCC : 903 285 : T V L T E S A A K N T D A V R A A : 301 24869043 : AAGGACGAGG TGTCCGAGAG CCGTCGTCTG CTCAAGGCCA AGACCCTGGA : 24868994 904 : AAGGACGAGG TGTCCGAGAG CCGTCGTCTG CTCAAGGCCA AGACCCTGGA : 953 302 : K D E V S E S R R L L K A K T L E : 318 VARIANTS : d dddddddddd dddd : VARIANTS VARIANTS : T C C : VARIANTS 24868993 : AATCGAAGCA TGCCGGGGCA TGAATGAAGC GCTGGAGAAG CAGCTGCAGG : 24868944 954 : AATCGAAGCA TGCCGGGGCA TGAATGAAGC GCTGGAGAAG CAGCTGCAGG : 1003 319 : I E A C R G M N E A L E K Q L Q : 334 VARIANTS : ddddddddd dddd P P : VARIANTS 24868943 : AGCTGGAGGA CAAGCAGAAC GCCGACATCA GCGCTATGCA GGTGCGGCAC : 24868894 1004 : AGCTGGAGGA CAAGCAGAAC GCCGACATCA GCGCTATGCA G : 1044 335 : E L E D K Q N A D I S A M Q : 348 24868893 : GGCCAGAAAC ACAGGGGGGC GGGGGACTCG AGCAAGGGGG GGAGTTGGTG : 24868844 24868843 : CGCCCAGAAA GTGGAGACCA GGGGTGGTGC GGCTGCACGC AGCTCTTAGG : 24868794 24868793 : GATAGGGCTT GGCTCCTTGG CCACTGTGTG GGAGGGGTGG GGCACTTGAA : 24868744 24868743 : GGGCGTGAGT GCGGGCGCCA CTGTAGTCTG GGAGTGTGCT CCGTGCTGCT : 24868694 24868693 : GCACCGGCGT TCCGCATTAA AGCTGCCCAG CCCTTGTTGG GTGGGGGAGG : 24868644 24868643 : GGAAGACGTG GGAATTGGGC GTTGCCTCCG GCCTGCAGTG AGATCAGCTC : 24868594 24868593 : TCTACTGACC TGCATTAACC ACAAGTTACT TTGCAGCAAC TATCGGATCA : 24868544 24868543 : TCTAGTTAAT AAATAGTAGA GTGAACAACT CTCAATTAAT TCTGAAGGAT : 24868494 24868493 : TACTGTGACC AGCATGCTTT ATGACTAGTT TTACCAACCA CTCCCTTCCT : 24868444 24868443 : TTATTTAGTA GGTAGACAGG AAAATAGTCA ACATTGTTTT AGGTAGTTAA : 24868394 24868393 : CTAGTGATGT TCATAGTAAA CCATTTCCTT TTACCTTTTT TTTTTCTTTT : 24868344 24868343 : TTTCTTTATG TGTAAAATCT TCTACAACAT TTCTGTTTAA ACATCTCCAT : 24868294 24868293 : CTTCTGGGGA GTAGAAAAAA TACAATTTTA AAAAGATCTC CATTTTAAAA : 24868244 24868243 : CATCTCCATC TTCTGGGGAG TAGAAATTTT TTTCTTCTTC TGGGGAGTAG : 24868194 24868193 : AAAAAATAAT TTAGATACAT AGGAAATATT TCATAGAAAA TAATTTTTTT : 24868144 24868143 : CTTTTTTTTG TTTACATCTG GCTATTTTCT TCTCATAAAG AAAGGCATTA : 24868094 24868093 : GTTTCCTGGC ATGTAACCCA GCTAAAGAAG AGTTAATCAG TGAATGAGAG : 24868044 24868043 : ACACAGTTTT TCTATCAACT TAGTCTGTTT GCATGCATTT TATGATGATC : 24867994 24867993 : ATTAAACAGT ATTAAGTAAA GAAACAGAAG AACAGAATTT TCGTCCATCT : 24867944 24867943 : TTTTTTTCAT CTCAGGCTTC ATGAACTTGG GTATTTTAGG CATGAAGGTT : 24867894 24867893 : TTTCAAAAGA TACAGGAAGT TATTCTAGGA GAGATTTTAT CAAAGGTGTG : 24867844 24867843 : CACCTTGATT TTAATCGAAA CTAGGCCTTT GCAACTACAC TACAGTAAAA : 24867794 VARIANTS : ii : VARIANTS 24867793 : TAATAGAAGG GATTTATGCT CGGATTTTTT TTTTGTTTTA TTTTTGTCTT : 24867744 24867743 : CAAACAGGAC ACGATCAACA AATTAGAAAA TGAATTGAGG ACCACAAAGA : 24867694 1045 : GAC ACGATCAACA AATTAGAAAA TGAATTGAGG ACCACAAAGA : 1087 349 : D T I N K L E N E L R T T K : 362 24867693 : GTGAAATGGC ACGATACCTA AAAGAATACC AAGACCTCCT CAACGTGAAG : 24867644 1088 : GTGAAATGGC ACGATACCTA AAAGAATACC AAGACCTCCT CAACGTGAAG : 1137 363 : S E M A R Y L K E Y Q D L L N V K : 379 24867643 : ATGGCTTTGG ATATTGAGAT TGCAGCTTAC AGGTGAAAAT AGAGGGGCAA : 24867594 1138 : ATGGCTTTGG ATATTGAGAT TGCAGCTTAC AG : 1169 380 : M A L D I E I A A Y R : 390 24867593 : AGACAGCAGC CATTAAACCT TAGGAAGAAA ATCAGATCCC ATTTAAAGTT : 24867544 24867543 : ATGTTGGATC AGAAACCTTC AATAATAGTC CTTTTGAAAT AATGAAGTGT : 24867494 24867493 : TAGTTTTTGG CTTCTTCCAA GAAGAGGGTA TTTAGATATA TAAGAATTTA : 24867444 24867443 : ACCCTGTAAT TAGGAGTCCT GTTTTTATCT TGTCATTACA CTTTAAATCT : 24867394 24867393 : AATAGGATGA TTTATTTATA TTTTTTCTGG TCTCCATCAA AAGATCCCCA : 24867344 24867343 : GGCATTAAGT ATTGATAAAT CCCAGCCCTG CTCCTGCTTG CCTTTGTGTT : 24867294 24867293 : TAGGGTACTC AGAGCAAGTT GTGAAACACA GGTGTTTTTT AACCTCACCT : 24867244 VARIANTS : A A : VARIANTS 24867243 : TGCATCTGCA TCCCCAGGAA ACTCTTGGAA GGCGAGGAGA CCCGACTCAG : 24867194 1170 : GAA ACTCTTGGAA GGCGAGGAGA CCCGACTCAG : 1202 391 : K L L E G E E T R L S : 401 VARIANTS : K K : VARIANTS VARIANTS : T : VARIANTS 24867193 : TTTCACCAGC GTGGGAAGCA TAACCAGTGG CTACTCCCAG AGCTCCCAGG : 24867144 1203 : TTTCACCAGC GTGGGAAGCA TAACCAGTGG CTACTCCCAG AGCTCCCAGG : 1252 402 : F T S V G S I T S G Y S Q S S Q : 417 24867143 : TCTTTGGCCG ATCTGCCTAC GGCGGTTTAC AGACCAGCTC CTATCTGATG : 24867094 1253 : TCTTTGGCCG ATCTGCCTAC GGCGGTTTAC AGACCAGCTC CTATCTGATG : 1302 418 : V F G R S A Y G G L Q T S S Y L M : 434 VARIANTS : A : VARIANTS 24867093 : TCCACCCGCT CCTTCCCGTC CTACTACACC AGCCATGTCC AAGAGGAGCA : 24867044 1303 : TCCACCCGCT CCTTCCCGTC CTACTACACC AGCCATGTCC AAGAGGAGCA : 1352 435 : S T R S F P S Y Y T S H V Q E E Q : 451 VARIANTS : A : VARIANTS 24867043 : GATCGAAGTG GAGGAAACCA TTGAGGCTGC CAAGGCTGAG GAAGCCAAGG : 24866994 1353 : GATCGAAGTG GAGGAAACCA TTGAGGCTGC CAAGGCTGAG GAAGCCAAGG : 1402 452 : I E V E E T I E A A K A E E A K : 467 24866993 : ATGAGCCCCC CCTCTGAAGG AGAAGCCGAG GAGGAGGAGA AGGACAAGGA : 24866944 1403 : ATGAG-CCCC CCTCTGAAGG AGAAGCCGAG GAGGAGGAGA AGGACAAGGA : 1451 468 : D E P P S E G E A E E E E K D K E : 484 VARIANTS : N : VARIANTS VARIANTS : T : VARIANTS 24866943 : AGAGGCCGAG GAAGAGGAGG CAGCTGAAGA GGAAGAAGGT ATGATAAGAA : 24866894 1452 : AGAGGCCGAG GAAGAGGAGG CAGCTGAAGA GGAAGAAG : 1489 485 : E A E E E E A A E E E E : 496 24866893 : AAAACCCCTG CAACTTCAAG TGTAAACTGG GTGTGGAGAT TTGTTAGGAG : 24866844 24866843 : GTGGATAAGA CAAATGAAGC CTTGCTCATT TATTCATATA TGACATTAGA : 24866794 24866793 : ATCATAAATA AATTTTCTGT TTGTTTAGCA AAACTTTCCT AAGGCATCTA : 24866744 24866743 : CTCTGAATGA GGTGATTGGT CAAAATTTTC ATTTTTTAAT ATAATCATTT : 24866694 24866693 : AACACAGCAG GTTGGTGTCC TAAAGAACAA AAATAGATAC CAGACACATA : 24866644 24866643 : ATGAAAGAAA TATTGAGGTT AAGTCTTGGA GAGGAGCAGA GCTTCCCATA : 24866594 24866593 : CCTAGAAGTG ATCTCATTCG ATTTAAATAT GTGTTCAGTG GCAAATTATT : 24866544 24866543 : CATGGCAAGC TTTGTCTGTT ACATGTGCTT TTGGAGAGAG TGGAGCTGGG : 24866494 24866493 : AGGTTTTGGT AGCATTCTGA CAGTTGTGTT TGCAAATAAA ACCTTTGCAG : 24866444 24866443 : ACATGTTTTG ACTGGACTTA CCCTGGATTT GCATTTTGTA CATTTTCTTT : 24866394 VARIANTS : A : VARIANTS 24866393 : TTATGTTAAA GCTGCCAAGG AAGAGTCTGA AGAAGCAAAA GAAGAAGAAG : 24866344 1490 : CTGCCAAGG AAGAGTCTGA AGAAGCAAAA GAAGAAGAAG : 1528 497 : A A K E E S E E A K E E E : 509 VARIANTS : T : VARIANTS VARIANTS : A ii : VARIANTS 24866343 : AAGGAGGTGA AGGTGAAGAA GGAGAGGAAA CCAAAGAAGC TGAAGAGGAG : 24866294 1529 : AAGGAGGTGA AGGTGAAGAA GGAGAGGAAA CCAAAGAAGC TGAAGAGGAG : 1578 510 : E G G E G E E G E E T K E A E E E : 526 VARIANTS : G : VARIANTS VARIANTS : ddd G : VARIANTS 24866293 : GAGAAGAAAG TTGAAGGTGC TGGGGAGGAA CAAGCAGCTA AGAAGAAAGA : 24866244 1579 : GAGAAGAAAG TTGAAGGTGC TGGGGAGGAA CAAGCAGCTA AGAAGAAAGA : 1628 527 : E K K V E G A G E E Q A A K K K D : 543 VARIANTS : d : VARIANTS 24866243 : TTGAACCCCC ATTTCCTTAA TTATTTCAGG AATAATTCTC CCGAAATCAG : 24866194 1629 : TTGAACCCCC ATTTCCTTAA TTATTTCAGG AATAATTCTC CCGAAATCAG : *46 24866193 : GTCAACCCCA TCACCAACCA ACCAACCAGT TGAGTTCCAG ATTCTATGTG : 24866144 *47 : GTCAACCCCA TCACCAACCA ACCAACCAGT TGAGTTCCAG ATTCTATGTG : *96 24866143 : AATTAAAAAG TCAATATATG TATAATTCTG AGATGACTTA GGTTGGACAT : 24866094 *97 : AATTAAAAAG TCAATATATG TATAATTCTG AGATGACTTA GGTTGGACAT : *146 24866093 : TCAATGTTGT GCTATGAATT TCCTCTTTAT GCAGAGTATC TGTTTGCTTG : 24866044 *147 : TCAATGTTGT GCTATGAATT TCCTCTTTAT GCAGAGTATC TGTTTGCTTG : *196 24866043 : CAGAGTGGCT TTCTGGCTTG CTGCCAGCCT GTGCATGGAC CACGCTTATG : 24865994 *197 : CAGAGTGGCT TTCTGGCTTG CTGCCAGCCT GTGCATGGAC CACGCTTATG : *246 24865993 : AGTTCAGGAT CTACGGCAAT GTGAATCATT CAGATGTTTA CAATAAAAAA : 24865944 *247 : AGTTCAGGAT CTACGGCAAT GTGAATCATT CAGATGTTTA CAATAAAAAA : *296 24865943 : CACCACATGA GTAAATGAAT TCACTAATGT TAATGTTAAA CTTCATGGAA : 24865894 *297 : CACCACATGA GTAAATGAAT TCACTAATGT TAATGTTAAA CTTCATGGAA : *346 24865893 : AAATAGTCCT TTGAACCTTC GGTGGTTAGC AATTAAAGAC CCTGAGTTAT : 24865844 *347 : AAATAGTCCT TTGAACCTTC GGTGGTTAGC AATTAAAGAC CCTGAGTTAT : *396 24865843 : GTGCAATAAA TAGTAAATAA AGTTATACCG AATGATGTAT TTTTTGCTGT : 24865794 *397 : GTGCAATAAA TAGTAAATAA AGTTATACCG AATGATGTAT TTTTTGCTGT : *446 24865793 : GGTTGTTACT TAATTAAAAT ACCTTAAAGA TGGCACCAAT ATAAAGTATA : 24865744 *447 : GGTTGTTACT TAATTAAAAT ACCTTAAAGA TGGCACCAAT ATAAAGTATA : *496 24865743 : TACCAGTGGA CTATTGACCT CCAATTTTTT AAAAAGTTGA AATTTTAACA : 24865694 *497 : TACCAGTGGA CTATTGACCT CCAATTTTTT AAAAAGTTGA AATTTTAACA : *546 24865693 : ATTACCAATA CTTTTTTTTC TTCCTTCAAT TGGAAATTCT GAGGGATACA : 24865644 *547 : ATTACCAATA CTTTTTTTTC TTCCTTCAAT TGGAAATTCT GAGGGATACA : *596 24865643 : GTTATGTCAT GATTACTTGT GAAATCTCTC CCCACAAAAA TTTTACTGAT : 24865594 *597 : GTTATGTCAT GATTACTTGT GAAATCTCTC CCCACAAAAA TTTTACTGAT : *646 24865593 : AATAAACATG AGTAAATGAG AAAGTCTATA AATAACAATA GACTTTGCCT : 24865544 *647 : AATAAACATG AGTAAATGAG AAAGTCTATA AATAACAATA GACTTTGCCT : *696 24865543 : CATAACACGT GTTGTGTTAG GTTTTGGGAT GGCTTTCTAG GGAGCAATTC : 24865494 *697 : CATAACACGT GTTGTGTTAG GTTTTGGGAT GGCTTTCTAG GGAGCAATTC : *746 24865493 : TGAAATTACT TGACAGATAC ACTCTTTATG GTAAACAGGT CATTTCAGAG : 24865444 *747 : TGAAATTACT TGACAGATAC ACTCTTTATG GTAAACAGGT CATTTCAGAG : *796 24865443 : TCTAGAGTGC TAACCATTAC ACTATGGAAC CATGATAAAT AGGTCATTTC : 24865394 *797 : TCTAGAGTGC TAACCATTAC ACTATGGAAC CATGATAAAT AGGTCATTTC : *846 24865393 : AAACTGATAT GTCACAATGC AATATGGATA GAATATGAAT CCCATACATT : 24865344 *847 : AAACTGATAT GTCACAATGC AATATGGATA GAATATGAAT CCCATACATT : *896 24865343 : CATCCCTATA ACTGCATTTT AAAATATAGT CTAAATATCA TGGGAGGAGG : 24865294 *897 : CATCCCTATA ACTGCATTTT AAAATATAGT CTAAATATCA TGGGAGGAGG : *946 24865293 : TTAAAACCTG AGAACATGGT ACAATAAGAA GGAATAATTT TTTATCTATA : 24865244 *947 : TTAAAACCTG AGAACATGGT ACAATAAGAA GGAATAATTT TTTATCTATA : *996 24865243 : TATAATTTCA GGAGAAGGGA TTAAAACTAC CAAAGGTTAT TTGCCACTCC : 24865194 *997 : TATAATTTCA GGAGAAGGGA TTAAAACTAC CAAAGGTTAT TTGCCACTCC : *1046 24865193 : ACTGCAAACA TGTTGCCTGC AATCCTGAGC TCATGATTTA GTGTGTTGTT : 24865144 *1047 : ACTGCAAACA TGTTGCCTGC AATCCTGAGC TCATGATTTA GTGTGTTGTT : *1096 24865143 : AAGCGTAATT CTGTTGCCTC AAGTAAATAC CACTTAATGC TACACATTTT : 24865094 *1097 : AAGCGTAATT CTGTTGCCTC AAGTAAATAC CACTTAATGC TACACATTTT : *1146 24865093 : TAAACCTTTA AAAGCTACAG ACACAAGTAA TGAAATTATG AGTCACTTAA : 24865044 *1147 : TAAACCTTTA AAAGCTACAG ACACAAGTAA TGAAATTATG AGTCACTTAA : *1196 24865043 : GGGGGGAGGT AATATGCTTG TATGTTACAT TGACATTGCT CTGCATGTCT : 24864994 *1197 : GGGGGGAGGT AATATGCTTG TATGTTACAT TGACATTGCT CTGCATGTCT : *1246 24864993 : CTACTGGGAG ATATTTGGAT TTCAATGATA GCTTGACTGG TTGGACATTG : 24864944 *1247 : CTACTGGGAG ATATTTGGAT TTCAATGATA GCTTGACTGG TTGGACATTG : *1296 24864943 : CATCAAATAC ACGCCCCATG TATCCTTTCT GTCGTAAAGT TAAGAACGCT : 24864894 *1297 : CATCAAATAC ACGCCCCATG TATCCTTTCT GTCGTAAAGT TAAGAACGCT : *1346 24864893 : CTTGCATTTG ATGTGGAATA AATATAGATG ATATTACTAT CTGCTATTCT : 24864844 *1347 : CTTGCATTTG ATGTGGAATA AATATAGATG ATATTACTAT CTGCTATTCT : *1396 24864843 : GCCTTTGTTC TGAAACAATT GCTTTGTCAG CTAATTTCAT TCAATATTTG : 24864794 *1397 : GCCTTTGTTC TGAAACAATT GCTTTGTCAG CTAATTTCAT TCAATATTTG : *1446 24864793 : TTTTTTAGAC GATCTCTATA AGTTATTAAT TTAACCTGAA ACCAAAGTGG : 24864744 *1447 : TTTTTTAGAC GATCTCTATA AGTTATTAAT TTAACCTGAA ACCAAAGTGG : *1496 24864743 : TCTCCATTTA AAGTTACTTA ATCCCTTTGT ACCACCTATT TCTAGTTAAA : 24864694 *1497 : TCTCCATTTA AAGTTACTTA ATCCCTTTGT ACCACCTATT TCTAGTTAAA : *1546 24864693 : TATATGTTGC TATGCAAATA GGTAAAGTGC TTCCTTGCCA TGATGGTAAT : 24864644 *1547 : TATATGTTGC TATGCAAATA GGTAAAGTGC TTCCTTGCCA TGATGGTAAT : *1596 24864643 : GGATTGGAAC TATGAAGGCT CTCAGTGTAT TGGCTTCTGT AAAGATGAGG : 24864594 *1597 : GGATTGGAAC TATGAAGGCT CTCAGTGTAT TGGCTTCTGT AAAGATGAGG : *1646 24864593 : CGTCTCCTCA GAAACAAAAC TTTTCACATT TCTGCTTACT AGACCTGGGT : 24864544 *1647 : CGTCTCCTCA GAAACAAAAC TTTTCACATT TCTGCTTACT AGACCTGGGT : *1696 24864543 : TGATGTACAT GGTAAGTCTC AAACAGATGC AAGCTATGTG CAAAAAGTAA : 24864494 *1697 : TGATGTACAT GGTAAGTCTC AAACAGATGC AAGCTATGTG CAAAAAGTAA : *1746 24864493 : CTTTAGCCAA ATGGAAATAG CTGGATGCTT TGAGAATTAC TTGGTTGAAG : 24864444 *1747 : CTTTAGCCAA ATGGAAATAG CTGGATGCTT TGAGAATTAC TTGGTTGAAG : *1796 24864443 : TAAGAAAACT GTACCATCCT CTATCCTGTG TGCCATAATA AAATAGTAAA : 24864394 *1797 : TAAGAAAACT GTACCATCCT CTATCCTGTG TGCCATAATA AAATAGTAAA : *1846 24864393 : AAACCTAAA : 24864385 *1847 : AAACCTAAA : *1855 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:02:41 RefSeq ID NM_006158.2 GI 105990538 Length 3584 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -97 GCACACAGCC ATCCATCCTC CCCCTTCCCT CTCTCCCCTG TCCTCTCTCT -48 -47 CCGGGCTCCC ACCGCCGCCG CGGGCCGGGG AGCCACCGGC CGCCACCATG 3 4 AGTTCCTTCA GCTACGAGCC GTACTACTCG ACCTCCTACA AGCGGCGCTA 53 54 CGTGGAGACG CCCCGGGTGC ACATCTCCAG CGTGCGCAGC GGCTACAGCA 103 104 CCGCACGCTC AGCTTACTCC AGCTACTCGG CGCCGGTGTC TTCCTCGCTG 153 154 TCCGTGCGCC GCAGCTACTC CTCCAGCTCT GGATCGTTGA TGCCCAGTCT 203 204 GGAGAACCTC GACCTGAGCC AGGTAGCCGC CATCAGCAAC GACCTCAAGT 253 254 CCATCCGCAC GCAGGAGAAG GCGCAGCTCC AGGACCTCAA TGACCGCTTC 303 304 GCCAGCTTCA TCGAGCGCGT GCACGAGCTG GAGCAGCAGA ACAAGGTCCT 353 354 GGAAGCCGAG CTGCTGGTGC TGCGCCAGAA GCACTCCGAG CCATCCCGCT 403 404 TCCGGGCGCT GTACGAGCAG GAGATCCGCG ACCTGCGCCT GGCGGCGGAA 453 454 GATGCCACCA ACGAGAAGCA GGCGCTCCAG GGCGAGCGCG AAGGGCTGGA 503 504 GGAGACCCTG CGCAACCTGC AGGCGCGCTA TGAAGAGGAG GTGCTGAGCC 553 554 GCGAGGACGC CGAGGGCCGG CTGATGGAAG CGCGCAAAGG CGCCGACGAG 603 604 GCGGCGCTCG CTCGCGCCGA GCTCGAGAAG CGCATCGACA GCTTGATGGA 653 654 CGAAATCTCT TTTCTGAAGA AAGTGCACGA AGAGGAGATC GCCGAACTGC 703 704 AGGCGCAGAT CCAGTACGCG CAGATCTCCG TGGAGATGGA CGTGACCAAG 753 754 CCCGACCTTT CCGCCGCGCT CAAGGACATC CGCGCGCAGT ACGAGAAGCT 803 804 GGCCGCCAAG AACATGCAGA ACGCTGAGGA ATGGTTCAAG AGCCGCTTCA 853 854 CCGTGCTGAC CGAGAGCGCC GCCAAGAACA CCGACGCCGT GCGCGCCGCC 903 904 AAGGACGAGG TGTCCGAGAG CCGTCGTCTG CTCAAGGCCA AGACCCTGGA 953 954 AATCGAAGCA TGCCGGGGCA TGAATGAAGC GCTGGAGAAG CAGCTGCAGG 1003 1004 AGCTGGAGGA CAAGCAGAAC GCCGACATCA GCGCTATGCA GGACACGATC 1053 1054 AACAAATTAG AAAATGAATT GAGGACCACA AAGAGTGAAA TGGCACGATA 1103 1104 CCTAAAAGAA TACCAAGACC TCCTCAACGT GAAGATGGCT TTGGATATTG 1153 1154 AGATTGCAGC TTACAGGAAA CTCTTGGAAG GCGAGGAGAC CCGACTCAGT 1203 1204 TTCACCAGCG TGGGAAGCAT AACCAGTGGC TACTCCCAGA GCTCCCAGGT 1253 1254 CTTTGGCCGA TCTGCCTACG GCGGTTTACA GACCAGCTCC TATCTGATGT 1303 1304 CCACCCGCTC CTTCCCGTCC TACTACACCA GCCATGTCCA AGAGGAGCAG 1353 1354 ATCGAAGTGG AGGAAACCAT TGAGGCTGCC AAGGCTGAGG AAGCCAAGGA 1403 1404 TGAGCCCCCC TCTGAAGGAG AAGCCGAGGA GGAGGAGAAG GACAAGGAAG 1453 1454 AGGCCGAGGA AGAGGAGGCA GCTGAAGAGG AAGAAGCTGC CAAGGAAGAG 1503 1504 TCTGAAGAAG CAAAAGAAGA AGAAGAAGGA GGTGAAGGTG AAGAAGGAGA 1553 1554 GGAAACCAAA GAAGCTGAAG AGGAGGAGAA GAAAGTTGAA GGTGCTGGGG 1603 1604 AGGAACAAGC AGCTAAGAAG AAAGATTGAA CCCCCATTTC CTTAATTATT *21 *22 TCAGGAATAA TTCTCCCGAA ATCAGGTCAA CCCCATCACC AACCAACCAA *71 *72 CCAGTTGAGT TCCAGATTCT ATGTGAATTA AAAAGTCAAT ATATGTATAA *121 *122 TTCTGAGATG ACTTAGGTTG GACATTCAAT GTTGTGCTAT GAATTTCCTC *171 *172 TTTATGCAGA GTATCTGTTT GCTTGCAGAG TGGCTTTCTG GCTTGCTGCC *221 *222 AGCCTGTGCA TGGACCACGC TTATGAGTTC AGGATCTACG GCAATGTGAA *271 *272 TCATTCAGAT GTTTACAATA AAAAACACCA CATGAGTAAA TGAATTCACT *321 *322 AATGTTAATG TTAAACTTCA TGGAAAAATA GTCCTTTGAA CCTTCGGTGG *371 *372 TTAGCAATTA AAGACCCTGA GTTATGTGCA ATAAATAGTA AATAAAGTTA *421 *422 TACCGAATGA TGTATTTTTT GCTGTGGTTG TTACTTAATT AAAATACCTT *471 *472 AAAGATGGCA CCAATATAAA GTATATACCA GTGGACTATT GACCTCCAAT *521 *522 TTTTTAAAAA GTTGAAATTT TAACAATTAC CAATACTTTT TTTTCTTCCT *571 *572 TCAATTGGAA ATTCTGAGGG ATACAGTTAT GTCATGATTA CTTGTGAAAT *621 *622 CTCTCCCCAC AAAAATTTTA CTGATAATAA ACATGAGTAA ATGAGAAAGT *671 *672 CTATAAATAA CAATAGACTT TGCCTCATAA CACGTGTTGT GTTAGGTTTT *721 *722 GGGATGGCTT TCTAGGGAGC AATTCTGAAA TTACTTGACA GATACACTCT *771 *772 TTATGGTAAA CAGGTCATTT CAGAGTCTAG AGTGCTAACC ATTACACTAT *821 *822 GGAACCATGA TAAATAGGTC ATTTCAAACT GATATGTCAC AATGCAATAT *871 *872 GGATAGAATA TGAATCCCAT ACATTCATCC CTATAACTGC ATTTTAAAAT *921 *922 ATAGTCTAAA TATCATGGGA GGAGGTTAAA ACCTGAGAAC ATGGTACAAT *971 *972 AAGAAGGAAT AATTTTTTAT CTATATATAA TTTCAGGAGA AGGGATTAAA *1021 *1022 ACTACCAAAG GTTATTTGCC ACTCCACTGC AAACATGTTG CCTGCAATCC *1071 *1072 TGAGCTCATG ATTTAGTGTG TTGTTAAGCG TAATTCTGTT GCCTCAAGTA *1121 *1122 AATACCACTT AATGCTACAC ATTTTTAAAC CTTTAAAAGC TACAGACACA *1171 *1172 AGTAATGAAA TTATGAGTCA CTTAAGGGGG GAGGTAATAT GCTTGTATGT *1221 *1222 TACATTGACA TTGCTCTGCA TGTCTCTACT GGGAGATATT TGGATTTCAA *1271 *1272 TGATAGCTTG ACTGGTTGGA CATTGCATCA AATACACGCC CCATGTATCC *1321 *1322 TTTCTGTCGT AAAGTTAAGA ACGCTCTTGC ATTTGATGTG GAATAAATAT *1371 *1372 AGATGATATT ACTATCTGCT ATTCTGCCTT TGTTCTGAAA CAATTGCTTT *1421 *1422 GTCAGCTAAT TTCATTCAAT ATTTGTTTTT TAGACGATCT CTATAAGTTA *1471 *1472 TTAATTTAAC CTGAAACCAA AGTGGTCTCC ATTTAAAGTT ACTTAATCCC *1521 *1522 TTTGTACCAC CTATTTCTAG TTAAATATAT GTTGCTATGC AAATAGGTAA *1571 *1572 AGTGCTTCCT TGCCATGATG GTAATGGATT GGAACTATGA AGGCTCTCAG *1621 *1622 TGTATTGGCT TCTGTAAAGA TGAGGCGTCT CCTCAGAAAC AAAACTTTTC *1671 *1672 ACATTTCTGC TTACTAGACC TGGGTTGATG TACATGGTAA GTCTCAAACA *1721 *1722 GATGCAAGCT ATGTGCAAAA AGTAACTTTA GCCAAATGGA AATAGCTGGA *1771 *1772 TGCTTTGAGA ATTACTTGGT TGAAGTAAGA AAACTGTACC ATCCTCTATC *1821 *1822 CTGTGTGCCA TAATAAAATA GTAAAAAACC TAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:02:41 RefSeq ID NP_006149.2 GI 105990539 Isoelectric Point 4.3151 Molecular Weight 61516.4 Daltons Length 543 amino acids Download File | Text Sequence 1 MSSFSYEPYY STSYKRRYVE TPRVHISSVR SGYSTARSAY SSYSAPVSSS 50 51 LSVRRSYSSS SGSLMPSLEN LDLSQVAAIS NDLKSIRTQE KAQLQDLNDR 100 101 FASFIERVHE LEQQNKVLEA ELLVLRQKHS EPSRFRALYE QEIRDLRLAA 150 151 EDATNEKQAL QGEREGLEET LRNLQARYEE EVLSREDAEG RLMEARKGAD 200 201 EAALARAELE KRIDSLMDEI SFLKKVHEEE IAELQAQIQY AQISVEMDVT 250 251 KPDLSAALKD IRAQYEKLAA KNMQNAEEWF KSRFTVLTES AAKNTDAVRA 300 301 AKDEVSESRR LLKAKTLEIE ACRGMNEALE KQLQELEDKQ NADISAMQDT 350 351 INKLENELRT TKSEMARYLK EYQDLLNVKM ALDIEIAAYR KLLEGEETRL 400 401 SFTSVGSITS GYSQSSQVFG RSAYGGLQTS SYLMSTRSFP SYYTSHVQEE 450 451 QIEVEETIEA AKAEEAKDEP PSEGEAEEEE KDKEEAEEEE AAEEEEAAKE 500 501 ESEEAKEEEE GGEGEEGEET KEAEEEEKKV EGAGEEQAAK KKD Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 90 1A 91 125 L1 126 135 1B 136 236 L12 237 252 2A 253 271 L2 272 279 2B 280 400 Tail 400 543 Back to top

MONOCLONAL ANTIBODIES
Information last updated on 2008-08-25 16:54:38 Clone Name Species Reported Specificity Epitope Reference DA2 mouse NF-L - Evans et al, 2002 NR4 mouse NF-L - - 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 4487. Information last updated on 2007-08-17 12:23:47 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 419528 XM_417679.2 XP_417679.1 Vertebrates Rattus norvegicus 83613 NM_031783.1 NP_113971.1 Rodents Mus musculus 18039 NM_010910.1 NP_035040.1 Rodents Pan troglodytes 464063 XM_001159875.1 XP_001159875.1 Primates Canis familiaris 477378 XM_534572.2 XP_534572.1 Mammals 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 2009-04-13 15:16:40 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Amyotrophic lateral sclerosis 1 ALS1 #105400 Charcot-Marie-Tooth disease type 1 CMT1 #118200 Charcot-Marie-Tooth disease type 1F CMT1F #607734 Charcot-Marie-Tooth disease type 2 CMT2 #118210 Charcot-Marie-Tooth disease type 2E CMT2E #607684 Parkinson disease PD #168600 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 2009-04-13 15:16:40 * 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 11842 c.? Unknown p.= Silent Not affected PD Rahner et al, 2002 11843 c.? Unknown p.= Silent Not affected PD Rahner et al, 2002 11844 c.? Unknown p.= Silent Not affected PD Rahner et al, 2002 9250 c.19G>A Substitution p.Glu7Lys Substitution Head CMT1 Jordanova et al, 2003 9425 c.22_23delCCinsAG Indel p.Pro8Arg Substitution Head CMT2E De Jonghe et al, 2001 9037 c.23C>G Substitution p.Pro8Arg Substitution Head CMT1 Jordanova et al, 2003 9038 c.23C>T Substitution p.Pro8Leu Substitution Head CMT1 Jordanova et al, 2003 9039 c.23C>A Substitution p.Pro8Gln Substitution Head CMT1 Jordanova et al, 2003 12360 c.23C>G Substitution p.Pro8Arg Substitution Head CMT2 Miltenberger-Miltenyi et al, 2007 12361 c.23C>G Substitution p.Pro8Arg Substitution Head CMT2 Miltenberger-Miltenyi et al, 2007 13351 c.23C>T Substitution p.Pro8Leu Substitution Head CMT1 Abe et al, 2009 11636 c.48_60dup13 Duplication p.Thr21AlafsX83 Frame shift Head CMT2 Leung et al, 2006 9036 c.64C>A Substitution p.Pro22Thr Substitution Head CMT1 Yoshihara et al, 2002 9644 c.64C>T Substitution p.Pro22Ser Substitution Head CMT2 Georgiou et al, 2002 9044 c.64C>T Substitution p.Pro22Ser Substitution Head CMT2E Fabrizi et al, 2004 12332 c.64C>T Substitution p.Pro22Ser Substitution Head CMT2E Fabrizi et al, 2007 13381 c.64C>T Substitution p.Pro22Ser Substitution Head CMT1 Bhagavati et al, 2009 13348 c.65C>G Substitution p.Pro22Arg Substitution Head CMT1 Shin et al, 2008 9252 c.268G>A Substitution p.Glu90Lys Substitution Head CMT1 Jordanova et al, 2003 13354 c.268G>A Substitution p.Glu90Lys Substitution Head CMT1 Abe et al, 2009 12358 c.281T>C Substitution p.Leu94Pro Substitution 1A CMT2 Miltenberger-Miltenyi et al, 2007 9244 c.293A>G Substitution p.Asn98Ser Substitution 1A CMT1 Yoshihara et al, 2002 9253 c.293A>G Substitution p.Asn98Ser Substitution 1A CMT1 Jordanova et al, 2003 13352 c.293A>G Substitution p.Asn98Ser Substitution 1A CMT1 Abe et al, 2009 13358 c.418G>T Substitution p.Glu140X Substitution 1B CMT1 Abe et al, 2009 9245 c.446C>T Substitution p.Ala149Val Substitution 1B CMT1 Yoshihara et al, 2002 11988 c.639C>G Substitution p.Ile213Met Substitution 1B CMT2E* Kabzińska et al, 2006 11989 c.639C>G Substitution p.Ile213Met Substitution 1B CMT2E* Kabzińska et al, 2006 12334 c.803T>C Substitution p.Leu268Pro Substitution 2A CMT2E Fabrizi et al, 2007 12335 c.803T>C Substitution p.Leu268Pro Substitution 2A CMT2E Fabrizi et al, 2007 12338 c.963_977del15 Deletion p.Cys322_Asn326del Deletion 2B CMT2E Fabrizi et al, 2007 9643 c.995A>C Substitution p.Gln332Pro Substitution 2B CMT2 Mersiyanova et al, 2000 9277 c.998T>C Substitution p.Leu333Pro Substitution 2B CMT2E Choi et al, 2004 12340 c.1186G>A Substitution p.Glu396Lys Substitution 2B CMT2E Fabrizi et al, 2007 13356 c.1186G>A Substitution p.Glu396Lys Substitution 2B CMT1 Abe et al, 2009 9047 c.1189G>A Substitution p.Glu397Lys Substitution 2B CMT2E Züchner et al, 2004 9046 c.1189G>A Substitution p.Glu397Lys Substitution 2B CMT1F Choi et al, 2004 9487 c.1402G>A Substitution p.Asp468Asn Substitution Tail - Vechio et al, 1996 9279 c.1575_1576insG Insertion p.Glu526Gly Substitution Tail CMT2E Andrigo et al, 2005 9249 c.1579_1581delGAG Deletion p.Glu527del Deletion Tail CMT1 Jordanova et al, 2003 9285 c.1579_1581delGAG Deletion p.Glu527del Deletion Tail ALS1* Garcia 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 2009-03-20 15:40:43 * 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 Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 13370 c.-48_-47delTC Deletion p.= Silent Not affected Japanese - Abe et al, 2009 9323 c.-44_-42delGGCinsATG Indel p.= Silent Not affected Japanese - Yoshihara et al, 2002 12342 c.45G>A Substitution p.= Silent Not affected Caucasian - Fabrizi et al, 2007 9254 c.123C>T Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 9040 c.189G>A Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 9243 c.227T>C Substitution p.Val76Ala Substitution Head Japanese - Yoshihara et al, 2002 13360 c.227T>A Substitution p.Val76Ala Substitution Head Japanese - Abe et al, 2009 9246 c.279G>A Substitution p.= Silent Not affected Japanese - Yoshihara et al, 2002 9045 c.279G>A Substitution p.= Silent Not affected Korean - Choi et al, 2004 13361 c.279G>A Substitution p.= Silent Not affected Japanese - Abe et al, 2009 9259 c.423G>A Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 12344 c.639C>G Substitution p.Ile213Met Substitution 1B Caucasian - Fabrizi et al, 2007 9563 c.667C>T Substitution p.= Silent Not affected - - Vechio et al, 1996 9257 c.667C>T Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 12346 c.667C>T Substitution p.= Silent Not affected Caucasian - Fabrizi et al, 2007 9258 c.720C>T Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 12348 c.969G>T Substitution p.= Silent Not affected Caucasian - Fabrizi et al, 2007 9276 c.1045-23_1045-22insT Insertion p.? Unknown Unknown Korean - Choi et al, 2004 9255 c.1212C>T Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 12350 c.1212C>T Substitution p.= Silent Not affected Caucasian - Fabrizi et al, 2007 13363 c.1329C>A Substitution p.= Silent Not affected Japanese - Abe et al, 2009 8731 c.1402G>A Substitution p.Asp468Asn Substitution Tail - - Vechio et al, 1996 9251 c.1402G>A Substitution p.Asp468Asn Substitution Tail Caucasian - Jordanova et al, 2003 12352 c.1402G>A Substitution p.Asp468Asn Substitution Tail Caucasian - Fabrizi et al, 2007 9256 c.1458C>T Substitution p.= Silent Not affected Caucasian - Jordanova et al, 2003 9242 c.1492G>A Substitution p.Ala498Thr Substitution Tail Japanese - Yoshihara et al, 2002 13364 c.1492G>A Substitution p.Ala498Thr Substitution Tail Japanese - Abe et al, 2009 13372 c.1560C>A Substitution p.= Silent Not affected Japanese - Abe et al, 2009 9241 c.1579_1581delGAG Deletion p.Glu527del Deletion Tail Japanese - Yoshihara et al, 2002 9261 c.1579_1581delGAG Deletion p.Glu527del Deletion Tail Japanese - Yamamoto et al, 2004 13365 c.1579_1581delGAG Deletion p.Glu527del Deletion Tail Japanese - Abe et al, 2009 13366 c.1590T>G Substitution p.= Silent Not affected Japanese - Abe et al, 2009 Back to top