Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:01:42 * 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 12q12-q13 Chromosome Strand - Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 51200510 : TCGACAGCTC TCTCGCCCAG CCCAGTTCTG GAAGGGATAA AAAGGGGGCA : 51200461 -163 : TCGACAGCTC TCTCGCCCAG CCCAGTTCTG GAAGGGATAA AAAGGGGGCA : -114 51200460 : TCACCGTTCC TGGGTAACAG AGCCACCTTC TGCGTCCTGC TGAGCTCTGT : 51200411 -113 : TCACCGTTCC TGGGTAACAG AGCCACCTTC TGCGTCCTGC TGAGCTCTGT : -64 51200410 : TCTCTCCAGC ACCTCCCAAC CCACTAGTGC CTGGTTCTCT TGCTCCACCA : 51200361 -63 : TCTCTCCAGC ACCTCCCAAC CCACTAGTGC CTGGTTCTCT TGCTCCACCA : -14 VARIANTS : A : VARIANTS 51200360 : GGAACAAGCC ACCATGTCTC GCCAGTCAAG TGTGTCCTTC CGGAGCGGGG : 51200311 -13 : GGAACAAGCC ACCATGTCTC GCCAGTCAAG TGTGTCCTTC CGGAGCGGGG : 37 1 : M S R Q S S V S F R S G : 12 VARIANTS : X : VARIANTS VARIANTS : T : VARIANTS 51200310 : GCAGTCGTAG CTTCAGCACC GCCTCTGCCA TCACCCCGTC TGTCTCCCGC : 51200261 38 : GCAGTCGTAG CTTCAGCACC GCCTCTGCCA TCACCCCGTC TGTCTCCCGC : 87 13 : G S R S F S T A S A I T P S V S R : 29 VARIANTS : L : VARIANTS 51200260 : ACCAGCTTCA CCTCCGTGTC CCGGTCCGGG GGTGGCGGTG GTGGTGGCTT : 51200211 88 : ACCAGCTTCA CCTCCGTGTC CCGGTCCGGG GGTGGCGGTG GTGGTGGCTT : 137 30 : T S F T S V S R S G G G G G G G F : 46 51200210 : CGGCAGGGTC AGCCTTGCGG GTGCTTGTGG AGTGGGTGGC TATGGCAGCC : 51200161 138 : CGGCAGGGTC AGCCTTGCGG GTGCTTGTGG AGTGGGTGGC TATGGCAGCC : 187 47 : G R V S L A G A C G V G G Y G S : 62 51200160 : GGAGCCTCTA CAACCTGGGG GGCTCCAAGA GGATATCCAT CAGCACTAGT : 51200111 188 : GGAGCCTCTA CAACCTGGGG GGCTCCAAGA GGATATCCAT CAGCACTAGT : 237 63 : R S L Y N L G G S K R I S I S T S : 79 51200110 : GGTGGCAGCT TCAGGAACCG GTTTGGTGCT GGTGCTGGAG GCGGCTATGG : 51200061 238 : GGTGGCAGCT TCAGGAACCG GTTTGGTGCT GGTGCTGGAG GCGGCTATGG : 287 80 : G G S F R N R F G A G A G G G Y G : 96 51200060 : CTTTGGAGGT GGTGCCGGTA GTGGATTTGG TTTCGGCGGT GGAGCTGGTG : 51200011 288 : CTTTGGAGGT GGTGCCGGTA GTGGATTTGG TTTCGGCGGT GGAGCTGGTG : 337 97 : F G G G A G S G F G F G G G A G : 112 VARIANTS : C : VARIANTS 51200010 : GTGGCTTTGG GCTCGGTGGC GGAGCTGGCT TTGGAGGTGG CTTCGGTGGC : 51199961 338 : GTGGCTTTGG GCTCGGTGGC GGAGCTGGCT TTGGAGGTGG CTTCGGTGGC : 387 113 : G G F G L G G G A G F G G G F G G : 129 VARIANTS : R : VARIANTS VARIANTS : A A : VARIANTS 51199960 : CCTGGCTTTC CTGTCTGCCC TCCTGGAGGT ATCCAAGAGG TCACTGTCAA : 51199911 388 : CCTGGCTTTC CTGTCTGCCC TCCTGGAGGT ATCCAAGAGG TCACTGTCAA : 437 130 : P G F P V C P P G G I Q E V T V N : 146 VARIANTS : f D : VARIANTS VARIANTS : dd C T T G : VARIANTS 51199910 : CCAGAGTCTC CTGACTCCCC TCAACCTGCA AATCGACCCC AGCATCCAGA : 51199861 438 : CCAGAGTCTC CTGACTCCCC TCAACCTGCA AATCGACCCC AGCATCCAGA : 487 147 : Q S L L T P L N L Q I D P S I Q : 162 VARIANTS : f P L V S : VARIANTS VARIANTS : A : VARIANTS VARIANTS : A A C CG A C T G G C : VARIANTS VARIANTS : Tdddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS 51199860 : GGGTGAGGAC CGAGGAGCGC GAGCAGATCA AGACCCTCAA CAATAAGTTT : 51199811 488 : GGGTGAGGAC CGAGGAGCGC GAGCAGATCA AGACCCTCAA CAATAAGTTT : 537 163 : R V R T E E R E Q I K T L N N K F : 179 VARIANTS : S K K P K N F S S S : VARIANTS VARIANTS : ddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS VARIANTS : G : VARIANTS VARIANTS : K : VARIANTS VARIANTS : d dd : VARIANTS VARIANTS : G : VARIANTS VARIANTS : A C T : VARIANTS VARIANTS : dddddddddd dddddddd : VARIANTS 51199810 : GCCTCCTTCA TCGACAAGGT GAGCTACGAT CTTTTGTAAA AAATCACTGT : 51199761 538 : GCCTCCTTCA TCGACAAG : 555 180 : A S F I D K : 185 VARIANTS : D P F : VARIANTS VARIANTS : dddddddddd ddddddd : VARIANTS VARIANTS : V : VARIANTS VARIANTS : d : VARIANTS 51199760 : GGGTCTGAAA TAAATGCCAA AGAGAGAGAA AGAAGGAAGA TGTTTTGGCT : 51199711 51199710 : TTGTGCAAAT ACTTTTATAG TTGTACAGTT CTGTGTTTCC GTTTGTTTCT : 51199661 51199660 : GTGCCCTGGA TTTGTGGACA CGTTCTGAAT TAGACTGGCA GCTGGGAAGG : 51199611 51199610 : GAGAATTATT TCTTCCCATT CAGAGGTTAG CTCACAAGGG CCTCTTAACA : 51199561 51199560 : ACTGTTGGAC AGAGAGATGA ATTTCATGCC ATATATAAAG GGGCTGACTG : 51199511 51199510 : TACAGGAAGG TAGACAAGTG CATGGGCAGC AGCCTGAGTG CCTTTGCAGC : 51199461 51199460 : CACCCCTGAG CCGGGACACA CTCCAAGCAG CACTCCTAGT GCTTTCTGTG : 51199411 51199410 : CCCTGGATAG GTGTCCTATC TCCCCCTGGA AAAGTGAGTT TGGGTGCCTC : 51199361 51199360 : AGTCTGCACC TCCCCTCCTG GGGCCCAGGG CCAGGCACAG TGCACAGAAA : 51199311 51199310 : AGCTTTAGAG GGACGGAAAG AGGTGGGAGG CACCTTAGTG AGTTGATCAT : 51199261 VARIANTS : T : VARIANTS VARIANTS : A : VARIANTS 51199260 : AGAACATGAA ATCCAAGTTT CTCTATCTTC AAACCCTGCT CCCCTCCAGG : 51199211 556 : G : 556 VARIANTS : G T G : VARIANTS VARIANTS : A C C T A G C : VARIANTS 51199210 : TGCGGTTCCT GGAGCAGCAG AACAAGGTTC TGGACACCAA GTGGACCCTG : 51199161 557 : TGCGGTTCCT GGAGCAGCAG AACAAGGTTC TGGACACCAA GTGGACCCTG : 606 186 : V R F L E Q Q N K V L D T K W T L : 202 VARIANTS : M D P K E S T : VARIANTS VARIANTS : L K K R : VARIANTS VARIANTS : C : VARIANTS 51199160 : CTGCAGGAGC AGGGCACCAA GACTGTGAGG CAGAACCTGG AGCCGTTGTT : 51199111 607 : CTGCAGGAGC AGGGCACCAA GACTGTGAGG CAGAACCTGG AGCCGTTGTT : 656 203 : L Q E Q G T K T V R Q N L E P L F : 219 51199110 : CGAGCAGTAC ATCAACAACC TCAGGAGGCA GCTGGACAGC ATCGTGGGGG : 51199061 657 : CGAGCAGTAC ATCAACAACC TCAGGAGGCA GCTGGACAGC ATCGTGGGGG : 706 220 : E Q Y I N N L R R Q L D S I V G : 235 51199060 : AACGGGGCCG CCTGGACTCA GAGCTGAGAA ACATGCAGGA CCTGGTGGAA : 51199011 707 : AACGGGGCCG CCTGGACTCA GAGCTGAGAA ACATGCAGGA CCTGGTGGAA : 756 236 : E R G R L D S E L R N M Q D L V E : 252 51199010 : GACTTCAAGA ACAAGTGAGT TGGGGTGGAG GGTGGACACA GGGGAGGGTG : 51198961 757 : GACTTCAAGA ACAA : 770 253 : D F K N K : 257 51198960 : GTGTCTTCTT GGTACCAGAT GGGCTTTGTT ACTAGTCTAC TACCATGCCT : 51198911 51198910 : TCCTTTGGGG CTGGGAGGAT ATACCTTCCA TGGACACCTC CAGTACTAAA : 51198861 51198860 : ACAAACAAAC AAATACACAA GCCAGGCTCA TGTTTAGAAA GTTCCAGCCC : 51198811 51198810 : CAGGCTCAGG CCCTCTGCAA GGAACTTAGT CAACAGCCAG AGCAACATGC : 51198761 51198760 : TCTGTGCCCT TGGCACTACC TGGTGAAATC TGCCCTGATG TAAGGCTTGC : 51198711 51198710 : TCTCTGGGAC TTTCCTCCCC GGTACATGGG CCTTTGGATA GATTTGTCTC : 51198661 51198660 : AAAGCAGGAG CTGGTGACAT AACCCAGCTT GGTGGCTCAA GTAATTTCTT : 51198611 51198610 : TAGTCTTATG AACCAGCAAC TAGGATGCTA GATTTAATTT TGTTTCTTTT : 51198561 51198560 : CTTTTTTTTT TTAAAGCCTC TGAAAGCTCA AAAAAGAACA CTAGAGAAAT : 51198511 51198510 : TGACTAGGTA ATGCAGTTGG GGAGAAACAG CACAGCTTTT CTGCAGGAAT : 51198461 51198460 : CTGCTTGAAA CAACTGAATT AGAGCAATAA TAGAATTATT ATATGGTAGG : 51198411 51198410 : CAGTTACAGA GAAAGCAGTA TTTAAATGGG GAGGGACCTT GGCCAGAGGT : 51198361 51198360 : TCATGCTACC AGTGTCCCCT CCCTCTCTGC CTATGAGGAG AAGCCCCTTC : 51198311 51198310 : CCACTGCAAA AGTAGGCTTA CAGTTGACTG CATAATAAAG ACCCCTTACC : 51198261 51198260 : TGTTGCTCAT CCTCTGACAA ACACTTCCCA TCCCTTTCAC CACCAGGTAT : 51198211 771 : GTAT : 774 258 : Y : 258 51198210 : GAGGATGAAA TCAACAAGCG TACCACTGCT GAGAATGAGT TTGTGATGCT : 51198161 775 : GAGGATGAAA TCAACAAGCG TACCACTGCT GAGAATGAGT TTGTGATGCT : 824 259 : E D E I N K R T T A E N E F V M L : 275 51198160 : GAAGAAGGTG CGTGTGGGTG GGAGAGAACC AGCAGCCTGC AGCTATGCTC : 51198111 825 : GAAGAAG : 831 276 : K K : 277 51198110 : TCTAAGCGTG GAGCTCACTT GAGTAGGGTG ACGGTGTGTG CAGTGCCAAT : 51198061 51198060 : CATCCCTGTT TCCCCAGGAT GTAGATGCTG CCTACATGAA CAAGGTGGAG : 51198011 832 : GAT GTAGATGCTG CCTACATGAA CAAGGTGGAG : 864 278 : D V D A A Y M N K V E : 288 51198010 : CTGGAGGCCA AGGTTGATGC ACTGATGGAT GAGATTAACT TCATGAAGAT : 51197961 865 : CTGGAGGCCA AGGTTGATGC ACTGATGGAT GAGATTAACT TCATGAAGAT : 914 289 : L E A K V D A L M D E I N F M K M : 305 51197960 : GTTCTTTGAT GCGGTAAGAA ACTTATCTAA ATTTTTCACA TGGGTGGGTT : 51197911 915 : GTTCTTTGAT GCG : 927 306 : F F D A : 309 51197910 : TTTTTTCCTC AAGTTGTCAT ATCACAATGA GTGAAAGATT TGAATGGAAC : 51197861 51197860 : TGACATTAAA TAACACAACA CAGAACCAGA TGACCGACTC CAAATCTCCC : 51197811 VARIANTS : A : VARIANTS VARIANTS : G C C : VARIANTS 51197810 : TGCAGGAGCT GTCCCAGATG CAGACGCATG TCTCTGACAC CTCAGTGGTC : 51197761 928 : GAGCT GTCCCAGATG CAGACGCATG TCTCTGACAC CTCAGTGGTC : 972 310 : E L S Q M Q T H V S D T S V V : 324 VARIANTS : R A A : VARIANTS VARIANTS : D : VARIANTS VARIANTS : C T G : VARIANTS VARIANTS : C A C GA GA TA : VARIANTS 51197760 : CTCTCCATGG ACAACAACCG CAACCTGGAC CTGGATAGCA TCATCGCTGA : 51197711 973 : CTCTCCATGG ACAACAACCG CAACCTGGAC CTGGATAGCA TCATCGCTGA : 1022 325 : L S M D N N R N L D L D S I I A E : 341 VARIANTS : P K H S C : VARIANTS VARIANTS : T G K H : VARIANTS VARIANTS : E G : VARIANTS VARIANTS : V : VARIANTS VARIANTS : A : VARIANTS 51197710 : GGTCAAGGCC CAGTATGAGG AGATTGCCAA CCGCAGCCGG ACAGAAGCCG : 51197661 1023 : GGTCAAGGCC CAGTATGAGG AGATTGCCAA CCGCAGCCGG ACAGAAGCCG : 1072 342 : V K A Q Y E E I A N R S R T E A : 357 VARIANTS : S : VARIANTS 51197660 : AGTCCTGGTA TCAGACCAAG GTGGGTGCTC TGATGACTGT CTCCTGAGTG : 51197611 1073 : AGTCCTGGTA TCAGACCAAG : 1092 358 : E S W Y Q T K : 364 51197610 : AGGGGACACA CCCATGTCTA GGATTCTAGG CCATGACGAC ACTAAGAATG : 51197561 51197560 : GGGCTCCTGG AACCTGCTGA AGCCCATTGG GATGCTTTAT AGGAATGGCT : 51197511 51197510 : GTGTAGACAA TTTCCATCTA AACCCAAGGA CCTGAGAAAT AATCTCACTC : 51197461 51197460 : TGAATCTCAC ACCAGTGTCT CCAGGAGAGC AAAGGCACTA GACTAGCTCA : 51197411 51197410 : GCCTTGGAAA AGCCTGAACC AGCCCCACAC TATTTGCCAC CACTTAGTAC : 51197361 51197360 : TCACTGCCTG TGAACTTTGG GAAAGTTCTT CCCATTCTCA TATAAACAGA : 51197311 51197310 : ATCTTTCCTC TTTCCTGGCT GCATCAGTAT GAGGAGCTGC AGCAGACAGC : 51197261 1093 : TAT GAGGAGCTGC AGCAGACAGC : 1115 365 : Y E E L Q Q T A : 372 51197260 : TGGCCGGCAT GGCGATGACC TCCGCAACAC CAAGCATGAG ATCTCTGAGA : 51197211 1116 : TGGCCGGCAT GGCGATGACC TCCGCAACAC CAAGCATGAG ATCTCTGAGA : 1165 373 : G R H G D D L R N T K H E I S E : 388 VARIANTS : G : VARIANTS 51197210 : TGAACCGGAT GATCCAGAGG CTGAGAGCCG AGATTGACAA TGTCAAGAAA : 51197161 1166 : TGAACCGGAT GATCCAGAGG CTGAGAGCCG AGATTGACAA TGTCAAGAAA : 1215 389 : M N R M I Q R L R A E I D N V K K : 405 VARIANTS : E : VARIANTS 51197160 : CAGGTAGGGT GAGATTGAAA GAGGGCAAGG AAGGGGCCTG AGTTCTAAAA : 51197111 1216 : CAG : 1218 406 : Q : 406 51197110 : GAAACACCTA CTTTGTTTTA TTTTGTTTTA CTTTTGCTAA ACACACGCAG : 51197061 51197060 : CTAGATCCAG TACCAGTGTT TCAGTGTCCT GCCACCCACG ATGTACTGGT : 51197011 51197010 : TTCTCTCTGG GATTCATGAT AGTTTGGTTT GTCTGACCCA GAAACTCAGA : 51196961 51196960 : AGGAGACACC TCAGGTCCCA AGCAACCCCA CTCTCCTCCT TTCTATCTGT : 51196911 VARIANTS : A : VARIANTS 51196910 : AGTGCGCCAA TCTGCAGAAC GCCATTGCGG ATGCCGAGCA GCGTGGGGAG : 51196861 1219 : TGCGCCAA TCTGCAGAAC GCCATTGCGG ATGCCGAGCA GCGTGGGGAG : 1266 407 : C A N L Q N A I A D A E Q R G E : 422 VARIANTS : K : VARIANTS VARIANTS : T dd dddddddddd ddd A : VARIANTS 51196860 : CTGGCCCTCA AGGATGCCAG GAACAAGCTG GCCGAGCTGG AGGAGGCCCT : 51196811 1267 : CTGGCCCTCA AGGATGCCAG GAACAAGCTG GCCGAGCTGG AGGAGGCCCT : 1316 423 : L A L K D A R N K L A E L E E A L : 439 VARIANTS : V d dddddddddd dd D : VARIANTS 51196810 : GCAGAAGGCC AAGCAGGACA TGGCCCGGCT GCTGCGTGAG TACCAGGAGC : 51196761 1317 : GCAGAAGGCC AAGCAGGACA TGGCCCGGCT GCTGCGTGAG TACCAGGAGC : 1366 440 : Q K A K Q D M A R L L R E Y Q E : 455 VARIANTS : C CCCG C T : VARIANTS 51196760 : TCATGAACAC CAAGCTGGCC CTGGACGTGG AGATCGCCAC TTACCGCAAG : 51196711 1367 : TCATGAACAC CAAGCTGGCC CTGGACGTGG AGATCGCCAC TTACCGCAAG : 1416 456 : L M N T K L A L D V E I A T Y R K : 472 VARIANTS : P D M P X : VARIANTS VARIANTS : L : VARIANTS VARIANTS : T : VARIANTS VARIANTS : A : VARIANTS VARIANTS : AG C TG : VARIANTS 51196710 : CTGCTGGAGG GCGAGGAATG CAGGTGAGTA GACAGCATGA ACTCAAGATG : 51196661 1417 : CTGCTGGAGG GCGAGGAATG CAG : 1439 473 : L L E G E E C R : 480 VARIANTS : G D G : VARIANTS VARIANTS : K X : VARIANTS VARIANTS : K : VARIANTS 51196660 : GCCTTCAGCT GATAAAGCGA AGCTGCTCTA CTGTGGGGTG TACAACACAC : 51196611 51196610 : ATACATGAGA TCAGTGACTT GTGCGTGATA ATGACACATC ATCAACACTA : 51196561 51196560 : TTTCAGTCTG ACTCATGGCC ATATAGCTGA CCTCAACTCA CTTTTCTGGT : 51196511 51196510 : CTCTTTTCCC CCACCGGTGT TCCTGGGCAC TGGCTGTCCT CCAAGCACCT : 51196461 51196460 : GAGCAACTCA GCAATCTTCT TGACACTTGT GCCTTTTCTG CTTTTGCTCA : 51196411 51196410 : CGTCCTTTGC TCAACCTCAA TATCCATGTC ATGCCCACCT CCATCCACCC : 51196361 51196360 : TTGTCCTCCA GTACCCCTTC CTTCAGGAAG GCTTTCATGT TTACTCCAGC : 51196311 51196310 : TGAGTTAAAC TCAGCTACCT TTGGATTGTC AAACTACTGT TTGCTTCAAC : 51196261 51196260 : CTCTGACATT GCCCATTGCC TACTTTCTGT TGGAGGAATT TCTGTCCGTG : 51196211 51196210 : CCAAGTTCTC TCACAGAATG TAACTCCTAC AAGGCAAAAA CTGCTTTCGA : 51196161 51196160 : CATAATCACA TTTTCCAAAT CTCTTATACT TTCCCCATAG TGGGTGGAGA : 51196111 51196110 : AGAATGTGAA TTATAATTCT TTCCTAACAA CTTGTTTCTA GGTCAATCCC : 51196061 51196060 : TCTTCATTGG AAAATCCCTC TGGAGAGTTC TCCCTTCCTT TAACTTAAGC : 51196011 51196010 : AGCTTTTGGG TGTACAGACT CCTGGCTTAT GGAATGAACT CGAATCATGA : 51195961 51195960 : GGATGGGAGT TAGCCACATA GACTAATGCT GTCTTTTTGG GAGCTGTTAA : 51195911 51195910 : CCCTTAATTC AATTTTTCCC CTTTCAGACT CAGTGGAGAA GGAGTTGGAC : 51195861 1440 : ACT CAGTGGAGAA GGAGTTGGAC : 1462 481 : L S G E G V G : 487 51195860 : CAGTCAACAT CTGTAAGTAG CTTTGAACAG ACATTAACAA CGACAATAAT : 51195811 1463 : CAGTCAACAT CT : 1474 488 : P V N I : 491 51195810 : ATGGGATATA TTTAGTGCCA ACTCAGAATT CTGCTGTTTC TAGATCCAAA : 51195761 51195760 : CTTTTCCCAT CCCAGCATAT GGTTATTTAT AATAATACAC TTAGTAAGTT : 51195711 51195710 : GTGGGTGGTG GAGGGGAAGG ACAGATTGGG ACAGGAAGCA ATGTGGCTTA : 51195661 51195660 : TGTCTCATCT CTTAAAGGGT AAGCCATGCA TCCTATGCTT CTTGGACCCT : 51195611 51195610 : GTCCCCTGCC TTGTCCCTAG TACCTAGCTC CCCCCAGTAC CTAGCTCCTC : 51195561 51195560 : CCCTCAGTAC CTAGCTCCCC TCAGTACCTA GCTCCCTGTA GTACCTAGCT : 51195511 51195510 : CCCCTCAGTA CCTAGCTCCT CTCAGTACCT AGCACCTTGC CTCTTACACT : 51195461 51195460 : CACCCACTTT TTTAGGGACC TTAATTAAAT GACAGTTCTT CCGGGCCTTG : 51195411 51195410 : TTTGCTACTC TGTAAAGGGG GTCCAGTAGA GTGCTCCAAC ACCAGCAGAT : 51195361 51195360 : CAAATAAATG GGCCATGCAG GATCAGCCTG GCAGATGGTC TCACTGAGTC : 51195311 51195310 : CTCCCTCCTT TCCCTGCAGC TGTTGTCACA AGCAGTGTTT CCTCTGGATA : 51195261 1475 : C TGTTGTCACA AGCAGTGTTT CCTCTGGATA : 1505 492 : S V V T S S V S S G Y : 502 VARIANTS : A : VARIANTS 51195260 : TGGCAGTGGC AGTGGCTATG GCGGTGGCCT CGGTGGAGGT CTTGGCGGCG : 51195211 1506 : TGGCAGTGGC AGTGGCTATG GCGGTGGCCT CGGTGGAGGT CTTGGCGGCG : 1555 503 : G S G S G Y G G G L G G G L G G : 518 VARIANTS : D : VARIANTS 51195210 : GCCTCGGTGG AGGTCTTGCC GGAGGTAGCA GTGGAAGCTA CTACTCCAGC : 51195161 1556 : GCCTCGGTGG AGGTCTTGCC GGAGGTAGCA GTGGAAGCTA CTACTCCAGC : 1605 519 : G L G G G L A G G S S G S Y Y S S : 535 VARIANTS : d : VARIANTS VARIANTS : d d : VARIANTS 51195160 : AGCAGTGGGG GTGTCGGCCT AGGTGGTGGG CTCAGTGTGG GGGGCTCTGG : 51195111 1606 : AGCAGTGGGG GTGTCGGCCT AGGTGGTGGG CTCAGTGTGG GGGGCTCTGG : 1655 536 : S S G G V G L G G G L S V G G S G : 552 VARIANTS : f f : VARIANTS VARIANTS : f : VARIANTS 51195110 : CTTCAGTGCA AGCAGTGGCC GAGGGCTGGG GGTGGGCTTT GGCAGTGGCG : 51195061 1656 : CTTCAGTGCA AGCAGTGGCC GAGGGCTGGG GGTGGGCTTT GGCAGTGGCG : 1705 553 : F S A S S G R G L G V G F G S G : 568 51195060 : GGGGTAGCAG CTCCAGCGTC AAATTTGTCT CCACCACCTC CTCCTCCCGG : 51195011 1706 : GGGGTAGCAG CTCCAGCGTC AAATTTGTCT CCACCACCTC CTCCTCCCGG : 1755 569 : G G S S S S V K F V S T T S S S R : 585 51195010 : AAGAGCTTCA AGAGCTAAGA ACCTGCTGCA AGTCACTGCC TTCCAAGTGC : 51194961 1756 : AAGAGCTTCA AGAGCTAAGA ACCTGCTGCA AGTCACTGCC TTCCAAGTGC : *32 586 : K S F K S : 590 51194960 : AGCAACCCAG CCCATGGAGA TTGCCTCTTC TAGGCAGTTG CTCAAGCCAT : 51194911 *33 : AGCAACCCAG CCCATGGAGA TTGCCTCTTC TAGGCAGTTG CTCAAGCCAT : *82 51194910 : GTTTTATCCT TTTCTGGAGA GTAGTCTAGA CCAAGCCAAT TGCAGAACCA : 51194861 *83 : GTTTTATCCT TTTCTGGAGA GTAGTCTAGA CCAAGCCAAT TGCAGAACCA : *132 51194860 : CATTCTTTGG TTCCCAGGAG AGCCCCATTC CCAGCCCCTG GTCTCCCGTG : 51194811 *133 : CATTCTTTGG TTCCCAGGAG AGCCCCATTC CCAGCCCCTG GTCTCCCGTG : *182 51194810 : CCGCAGTTCT ATATTCTGCT TCAAATCAGC CTTCAGGTTT CCCACAGCAT : 51194761 *183 : CCGCAGTTCT ATATTCTGCT TCAAATCAGC CTTCAGGTTT CCCACAGCAT : *232 51194760 : GGCCCCTGCT GACACGAGAA CCCAAAGTTT TCCCAAATCT AAATCATCAA : 51194711 *233 : GGCCCCTGCT GACACGAGAA CCCAAAGTTT TCCCAAATCT AAATCATCAA : *282 51194710 : AACAGAATCC CCACCCCAAT CCCAAATTTT GTTTTGGTTC TAACTACCTC : 51194661 *283 : AACAGAATCC CCACCCCAAT CCCAAATTTT GTTTTGGTTC TAACTACCTC : *332 51194660 : CAGAATGTGT TCAATAAAAT GCTTTTATAA TATAA----- ---------- : 51194626 *333 : CAGAATGTGT TCAATAAAAT GCTTTTATAA TATAAAAAAA AAAAAAAAAA : *382 51194626 : -- : 51194626 *383 : AA : *384 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:01:42 RefSeq ID NM_000424.3 GI 119395753 Length 2320 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -163 TCGACAGCTC TCTCGCCCAG CCCAGTTCTG GAAGGGATAA AAAGGGGGCA -114 -113 TCACCGTTCC TGGGTAACAG AGCCACCTTC TGCGTCCTGC TGAGCTCTGT -64 -63 TCTCTCCAGC ACCTCCCAAC CCACTAGTGC CTGGTTCTCT TGCTCCACCA -14 -13 GGAACAAGCC ACCATGTCTC GCCAGTCAAG TGTGTCCTTC CGGAGCGGGG 37 38 GCAGTCGTAG CTTCAGCACC GCCTCTGCCA TCACCCCGTC TGTCTCCCGC 87 88 ACCAGCTTCA CCTCCGTGTC CCGGTCCGGG GGTGGCGGTG GTGGTGGCTT 137 138 CGGCAGGGTC AGCCTTGCGG GTGCTTGTGG AGTGGGTGGC TATGGCAGCC 187 188 GGAGCCTCTA CAACCTGGGG GGCTCCAAGA GGATATCCAT CAGCACTAGT 237 238 GGTGGCAGCT TCAGGAACCG GTTTGGTGCT GGTGCTGGAG GCGGCTATGG 287 288 CTTTGGAGGT GGTGCCGGTA GTGGATTTGG TTTCGGCGGT GGAGCTGGTG 337 338 GTGGCTTTGG GCTCGGTGGC GGAGCTGGCT TTGGAGGTGG CTTCGGTGGC 387 388 CCTGGCTTTC CTGTCTGCCC TCCTGGAGGT ATCCAAGAGG TCACTGTCAA 437 438 CCAGAGTCTC CTGACTCCCC TCAACCTGCA AATCGACCCC AGCATCCAGA 487 488 GGGTGAGGAC CGAGGAGCGC GAGCAGATCA AGACCCTCAA CAATAAGTTT 537 538 GCCTCCTTCA TCGACAAGGT GCGGTTCCTG GAGCAGCAGA ACAAGGTTCT 587 588 GGACACCAAG TGGACCCTGC TGCAGGAGCA GGGCACCAAG ACTGTGAGGC 637 638 AGAACCTGGA GCCGTTGTTC GAGCAGTACA TCAACAACCT CAGGAGGCAG 687 688 CTGGACAGCA TCGTGGGGGA ACGGGGCCGC CTGGACTCAG AGCTGAGAAA 737 738 CATGCAGGAC CTGGTGGAAG ACTTCAAGAA CAAGTATGAG GATGAAATCA 787 788 ACAAGCGTAC CACTGCTGAG AATGAGTTTG TGATGCTGAA GAAGGATGTA 837 838 GATGCTGCCT ACATGAACAA GGTGGAGCTG GAGGCCAAGG TTGATGCACT 887 888 GATGGATGAG ATTAACTTCA TGAAGATGTT CTTTGATGCG GAGCTGTCCC 937 938 AGATGCAGAC GCATGTCTCT GACACCTCAG TGGTCCTCTC CATGGACAAC 987 988 AACCGCAACC TGGACCTGGA TAGCATCATC GCTGAGGTCA AGGCCCAGTA 1037 1038 TGAGGAGATT GCCAACCGCA GCCGGACAGA AGCCGAGTCC TGGTATCAGA 1087 1088 CCAAGTATGA GGAGCTGCAG CAGACAGCTG GCCGGCATGG CGATGACCTC 1137 1138 CGCAACACCA AGCATGAGAT CTCTGAGATG AACCGGATGA TCCAGAGGCT 1187 1188 GAGAGCCGAG ATTGACAATG TCAAGAAACA GTGCGCCAAT CTGCAGAACG 1237 1238 CCATTGCGGA TGCCGAGCAG CGTGGGGAGC TGGCCCTCAA GGATGCCAGG 1287 1288 AACAAGCTGG CCGAGCTGGA GGAGGCCCTG CAGAAGGCCA AGCAGGACAT 1337 1338 GGCCCGGCTG CTGCGTGAGT ACCAGGAGCT CATGAACACC AAGCTGGCCC 1387 1388 TGGACGTGGA GATCGCCACT TACCGCAAGC TGCTGGAGGG CGAGGAATGC 1437 1438 AGACTCAGTG GAGAAGGAGT TGGACCAGTC AACATCTCTG TTGTCACAAG 1487 1488 CAGTGTTTCC TCTGGATATG GCAGTGGCAG TGGCTATGGC GGTGGCCTCG 1537 1538 GTGGAGGTCT TGGCGGCGGC CTCGGTGGAG GTCTTGCCGG AGGTAGCAGT 1587 1588 GGAAGCTACT ACTCCAGCAG CAGTGGGGGT GTCGGCCTAG GTGGTGGGCT 1637 1638 CAGTGTGGGG GGCTCTGGCT TCAGTGCAAG CAGTGGCCGA GGGCTGGGGG 1687 1688 TGGGCTTTGG CAGTGGCGGG GGTAGCAGCT CCAGCGTCAA ATTTGTCTCC 1737 1738 ACCACCTCCT CCTCCCGGAA GAGCTTCAAG AGCTAAGAAC CTGCTGCAAG *14 *15 TCACTGCCTT CCAAGTGCAG CAACCCAGCC CATGGAGATT GCCTCTTCTA *64 *65 GGCAGTTGCT CAAGCCATGT TTTATCCTTT TCTGGAGAGT AGTCTAGACC *114 *115 AAGCCAATTG CAGAACCACA TTCTTTGGTT CCCAGGAGAG CCCCATTCCC *164 *165 AGCCCCTGGT CTCCCGTGCC GCAGTTCTAT ATTCTGCTTC AAATCAGCCT *214 *215 TCAGGTTTCC CACAGCATGG CCCCTGCTGA CACGAGAACC CAAAGTTTTC *264 *265 CCAAATCTAA ATCATCAAAA CAGAATCCCC ACCCCAATCC CAAATTTTGT *314 *315 TTTGGTTCTA ACTACCTCCA GAATGTGTTC AATAAAATGC TTTTATAATA *364 *365 TAAAAAAAAA AAAAAAAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:01:42 RefSeq ID NP_000415.2 GI 119395754 Isoelectric Point 8.2545 Molecular Weight 62461.3 Daltons Length 590 amino acids Download File | Text Sequence 1 MSRQSSVSFR SGGSRSFSTA SAITPSVSRT SFTSVSRSGG GGGGGFGRVS 50 51 LAGACGVGGY GSRSLYNLGG SKRISISTSG GSFRNRFGAG AGGGYGFGGG 100 101 AGSGFGFGGG AGGGFGLGGG AGFGGGFGGP GFPVCPPGGI QEVTVNQSLL 150 151 TPLNLQIDPS IQRVRTEERE QIKTLNNKFA SFIDKVRFLE QQNKVLDTKW 200 201 TLLQEQGTKT VRQNLEPLFE QYINNLRRQL DSIVGERGRL DSELRNMQDL 250 251 VEDFKNKYED EINKRTTAEN EFVMLKKDVD AAYMNKVELE AKVDALMDEI 300 301 NFMKMFFDAE LSQMQTHVSD TSVVLSMDNN RNLDLDSIIA EVKAQYEEIA 350 351 NRSRTEAESW YQTKYEELQQ TAGRHGDDLR NTKHEISEMN RMIQRLRAEI 400 401 DNVKKQCANL QNAIADAEQR GELALKDARN KLAELEEALQ KAKQDMARLL 450 451 REYQELMNTK LALDVEIATY RKLLEGEECR LSGEGVGPVN ISVVTSSVSS 500 501 GYGSGSGYGG GLGGGLGGGL GGGLAGGSSG SYYSSSSGGV GLGGGLSVGG 550 551 SGFSASSGRG LGVGFGSGGG SSSSVKFVST TSSSRKSFKS Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 168 1A 169 203 L1 204 215 1B 216 316 L12 317 333 2A 334 352 L2 353 360 2B 361 481 Tail 482 590 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 15:29:10 Clone Name Species Reported Specificity Epitope Reference 2.1.D7 rat K5, K6a, K6b, K6c, K8 - Purkis et al, 1990 34βE12 mouse K1, K5 - Gown and Vogel, 1982, Miettinen and Fetsch, 2000 AE14 mouse K5 - Moll et al, 1989, Lynch et al, 1986 C-22 mouse K5, K8 - Stasková et al, 1991, Upasani et al, 2004 C-50 mouse K5, K8 - Stasková et al, 1991 CK2E mouse K1, K2, K5 - Collin et al, 1992 D5/16 B4 mouse K5, K6a, K6b, K6c - Turashvili et al, 2007, Clover et al, 1997 KA1 mouse K5, K14, K18, K19 - Nagle et al, 1986, Jarasch et al, 1988, Upasani et al, 2004 OCS-1 mouse K5, K8 - Lehtonen, 1985 OV-TL 12/5 mouse K5, K7, K14, K19 - Ramaekers et al, 1990 RCK 103 mouse K5 - Ramaekers et al, 1987 RCK102 mouse K5, K8 - Ramaekers et al, 1987 RCK107 mouse K5, K14 - Wetzels et al, 1991 TS4 mouse K1, K5, K7, K8, K15 - Sundström et al, 1989, Upasani et al, 2004 XM26 mouse K5 - Moll et al, 1982, Bratthauer et al, 2003 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 55461. Information last updated on 2007-08-17 12:22:56 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Mus musculus 110308 NM_027011.2 NP_081287.1 Rodents Canis familiaris 486522 XM_855259.1 XP_860352.1 Mammals Gallus gallus 407779 NM_001001195.1 NP_001001195.1 Vertebrates 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 2009-10-16 16:12:13 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Dowling-Degos disease DDD #179850 Epidermolysis bullosa simplex with maternal somatic and germline mosaicism Epidermolysis bullosa simplex with migratory circinate erythema EBS-MCE #609352 Epidermolysis bullosa simplex with mottled pigmentation EBS-MP #131960 Epidermolysis bullosa simplex with severe palmoplantar hyperkeratosis Epidermolysis bullosa simplex, Dowling-Meara type EBS-DM #131760 Epidermolysis bullosa simplex, Köebner type EBS-K #131900 Epidermolysis bullosa simplex, Weber-Cockayne type EBS-WC #131800 Recessive epidermolysis bullosa simplex, Koebner type REBS-K #131900 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 2009-10-16 16:12:13 * 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 13661 c.1432G>A Substitution p.Glu478Lys Substitution - EBS-DM Sugiyama-Fukamatsu et al, 2009 13679 c.596A>T Substitution p.Lys199Met Substitution - EBS-WC Flohil et al, 2009 9124 c.14C>A Substitution p.Ser5X Substitution Head DDD Betz et al, 2006 8471 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Uttam et al, 1996 11327 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Uttam et al, 1996 8479 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Irvine et al, 1997 8488 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Moog et al, 1999 11349 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Moog et al, 1999 8492 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Irvine et al, 2001 11401 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Irvine et al, 2001 8978 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Hamada et al, 2004 8975 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Hamada et al, 2005 9125 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Shurman et al, 2006 11536 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Shurman et al, 2006 11541 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Pfendner et al, 2005 11601 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Yasukawa et al, 2006 11732 c.74C>T Substitution p.Pro25Leu Substitution Head EBS-MP Pascucci et al, 2006 9207 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11521 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11522 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11523 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11524 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11525 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11526 c.418dupA Duplication p.Ile140AsnfsX0 Frame shift Head DDD Betz et al, 2006 11594 c.428T>A Substitution p.Val143Asp Substitution Head EBS-K Yasukawa et al, 2006 11591 c.442_443delAG Deletion p.Leu149ProfsX29 Frame shift Head DDD Liao et al, 2007 12363 c.449T>C Substitution p.Leu150Pro Substitution Head EBS-K Oh et al, 2007 8484 c.455C>T Substitution p.Pro152Leu Substitution Head EBS-WC Müller et al, 1998 11595 c.473A>T Substitution p.Asp158Val Substitution Head EBS-WC Yasukawa et al, 2006 11665 c.473A>T Substitution p.Asp158Val Substitution Head EBS-K Saeki et al, 2006 8457 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11307 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11308 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11309 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11310 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11311 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11312 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11313 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 11314 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Ehrlich et al, 1995 8467 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Chan et al, 1993 11323 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Chan et al, 1993 8502 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Pfendner et al, 2003 9083 c.482T>G Substitution p.Ile161Ser Substitution Head EBS-WC Pfendner et al, 2005 12611 c.489G>T Substitution p.Arg165Ser Substitution Head EBS-DM Yuan et al, 2008 9371 c.490_555del66 Deletion p.Val164_Lys185del Deletion Head, 1A EBS-DM Rugg et al, 1999 9621 c.499G>A Substitution p.Glu167Lys Substitution Head EBS-WC Ciubotaru et al, 2003 11555 c.502G>A Substitution p.Glu168Lys Substitution Head EBS-DM Müller et al, 2006 11556 c.506G>C Substitution p.Arg169Pro Substitution 1A EBS-DM Müller et al, 2006 9652 c.[508G>C; =]+[=; 1252G>A] Substitution p.[Glu170Lys; =]+[=; Glu418Lys] Substitution 1A, 2B REBS-K Yasukawa et al, 2002 11561 c.508G>A Substitution p.Glu170Lys Substitution 1A EBS-WC Müller et al, 2006 13217 c.508G>A Substitution p.Glu170Lys Substitution 1A EBS-WC Glász-Bóna et al, 2009 11688 c.509A>G Substitution p.Glu170Gly Substitution 1A EBS-K Rugg et al, 2007 8456 c.519G>C Substitution p.Lys173Asn Substitution 1A EBS-K Stephens et al, 1995 9481 c.523C>T Substitution p.Leu175Phe Substitution 1A EBS-DM Nomura et al, 1996 8478 c.527A>G Substitution p.Asn176Ser Substitution 1A EBS-DM Stephens et al, 1997 8485 c.527A>G Substitution p.Asn176Ser Substitution 1A EBS-DM Sørensen et al, 1999 11596 c.527A>G Substitution p.Asn176Ser Substitution 1A EBS-DM Yasukawa et al, 2006 8970 c.530A>G Substitution p.Asn177Ser Substitution 1A EBS-WC Liovic et al, 2004 8477 c.536T>C Substitution p.Phe179Ser Substitution 1A EBS-DM Stephens et al, 1997 8973 c.539C>A Substitution p.Ala180Asp Substitution 1A EBS-DM Hamada et al, 2005 8490 c.541T>C Substitution p.Ser181Pro Substitution 1A EBS-DM Shemanko et al, 2000 11739 c.541T>C Substitution p.Ser181Pro Substitution 1A EBS-DM Horn and Tidman, 2000 8501 c.547A>T Substitution p.Ile183Phe Substitution 1A EBS-DM Pfendner et al, 2003 9079 c.547_549delATC Deletion p.Ile183del Deletion 1A EBS-DM Pfendner et al, 2005 9081 c.547A>T Substitution p.Ile183Phe Substitution 1A EBS-DM Pfendner et al, 2005 13218 c.547A>G Substitution p.Ile183Val Substitution 1A EBS-WC Glász-Bóna et al, 2009 9372 c.556-1G>C Substitution p.Val186_Gln189del Deletion 1A EBS-K Schuilenga-Hut et al, 2003 8494 c.556G>T Substitution p.Val186Leu Substitution 1A EBS-K Liovic et al, 2001 11598 c.556G>A Substitution p.Val186Met Substitution 1A EBS-K Yasukawa et al, 2006 11599 c.556G>T Substitution p.Val186Leu Substitution 1A EBS-K Yasukawa et al, 2006 11661 c.556G>A Substitution p.Val186Met Substitution 1A EBS-K Hattori et al, 2006 11557 c.568G>A Substitution p.Glu190Lys Substitution 1A EBS-WC Müller et al, 2006 13219 c.570G>C Substitution p.Glu190Asp Substitution 1A EBS-WC Glász-Bóna et al, 2009 11597 c.572A>C Substitution p.Gln191Pro Substitution 1A EBS-K Yasukawa et al, 2006 13220 c.572A>C Substitution p.Gln191Pro Substitution 1A EBS-K Glász-Bóna et al, 2009 8473 c.579C>G Substitution p.Asn193Lys Substitution 1A EBS-WC Humphries et al, 1996 11682 c.579C>T Substitution p.Asn193Lys Substitution 1A EBS-K Rugg et al, 2007 13383 c.594C>G Substitution p.Thr198Ser Substitution 1A EBS-WC Bowden et al, 2009 9122 c.596A>C Substitution p.Lys199Thr Substitution 1A EBS-WC Xu et al, 2004 11547 c.596A>G Substitution p.Lys199Arg Substitution 1A EBS-WC Abu Sa'd et al, 2006 9620 c.932T>G Substitution p.Leu311Arg Substitution 1B EBS-WC Ciubotaru et al, 2003 8481 c.968T>C Substitution p.Val323Ala Substitution L12 EBS-K Galligan et al, 1998 9622 c.971T>A Substitution p.Val324Asp Substitution L12 EBS-WC Ciubotaru et al, 2003 13235 c.971T>C Substitution p.Val324Ala Substitution L12 EBS-WC Chiang et al, 2008 8486 c.974T>C Substitution p.Leu325Pro Substitution L12 EBS-DM Sørensen et al, 1999 8976 c.974T>C Substitution p.Leu325Pro Substitution L12 EBS-WC Hamada et al, 2005 8454 c.980T>C Substitution p.Met327Thr Substitution L12 EBS-WC Chan et al, 1994 8474 c.980T>C Substitution p.Met327Thr Substitution L12 EBS-WC Humphries et al, 1996 8482 c.980T>A Substitution p.Met327Lys Substitution L12 EBS-WC Müller et al, 1998 11338 c.980T>A Substitution p.Met327Lys Substitution L12 EBS-WC Müller et al, 1998 9472 c.982G>C Substitution p.Asp328His Substitution L12 EBS-WC Müller et al, 1998 11339 c.982G>C Substitution p.Asp328His Substitution L12 EBS-WC Müller et al, 1998 11562 c.982G>C Substitution p.Asp328His Substitution L12 EBS-WC Müller et al, 2006 8469 c.983A>T Substitution p.Asp328Val Substitution L12 EBS-WC Matsuki et al, 1995 9123 c.983A>G Substitution p.Asp328Gly Substitution L12 EBS-WC Li et al, 2004 8491 c.984C>A Substitution p.Asp328Glu Substitution L12 EBS-WC Liovic et al, 2000 11689 c.986A>G Substitution p.Asn329Ser Substitution L12 EBS-WC Rugg et al, 2007 8455 c.987C>A Substitution p.Asn329Lys Substitution L12 EBS-WC Chan et al, 1994 9436 c.991C>T Substitution p.Arg331Cys Substitution L12 EBS-WC Rugg et al, 1993 11677 c.991C>T Substitution p.Arg331Cys Substitution L12 EBS-WC Rugg et al, 2007 13221 c.991C>G Substitution p.Arg331Gly Substitution L12 EBS-WC Glász-Bóna et al, 2009 11558 c.992G>A Substitution p.Arg331His Substitution L12 EBS-WC Müller et al, 2006 11559 c.992G>A Substitution p.Arg331His Substitution L12 EBS-WC Müller et al, 2006 11608 c.1054C>A Substitution p.Arg352Ser Substitution 2A EBS-WC Yasukawa et al, 2006 8496 c.1210A>G Substitution p.Lys404Glu Substitution 2B EBS-WC Schuilenga-Hut et al, 2003 11690 c.1283C>T Substitution p.Ala428Val Substitution 2B EBS-K Rugg et al, 2007 8977 c.1285_1299del15 Deletion p.Arg429_Ala433del Deletion 2B EBS-DM Kemp et al, 2005 8497 c.1313C>A Substitution p.Ala438Asp Substitution 2B EBS-WC Schuilenga-Hut et al, 2003 8466 c.1388T>C Substitution p.Leu463Pro Substitution 2B EBS-K Dong et al, 1993 12365 c.1398G>C Substitution p.Glu466Asp Substitution 2B EBS-K Oh et al, 2007 11691 c.1399A>C Substitution p.Ile467Leu Substitution 2B EBS-WC Rugg et al, 2007 8480 c.1400T>C Substitution p.Ile467Thr Substitution 2B EBS-DM Irvine et al, 1997 9080 c.1401C>G Substitution p.Ile467Met Substitution 2B EBS-K Pfendner et al, 2005 11560 c.1405A>C Substitution p.Thr469Pro Substitution 2B EBS-DM Müller et al, 2006 8495 c.1414A>T Substitution p.Lys472X Substitution 2B Epidermolysis bullosa simplex with severe palmoplantar hyperkeratosis Livingston et al, 2001 8498 c.1423G>A Substitution p.Glu475Lys Substitution 2B EBS-DM Schuilenga-Hut et al, 2003 11426 c.1423G>A Substitution p.Glu475Lys Substitution 2B EBS-DM Schuilenga-Hut et al, 2003 11603 c.1423G>A Substitution p.Glu475Lys Substitution 2B EBS-DM Yasukawa et al, 2006 8452 c.1424A>G Substitution p.Glu475Gly Substitution 2B EBS-DM Lane et al, 1992 11546 c.1427G>C Substitution p.Gly476Asp Substitution 2B EBS-WC Abu Sa'd et al, 2006 8475 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Stephens et al, 1997 11331 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Stephens et al, 1997 8487 c.1429G>T Substitution p.Glu477X Substitution 2B EBS-DM Müller et al, 1999 8500 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Pfendner et al, 2003 9082 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Pfendner et al, 2005 11563 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Müller et al, 2006 11604 c.1429G>A Substitution p.Glu477Lys Substitution 2B EBS-DM Yasukawa et al, 2006 8974 c.1430A>G Substitution p.Glu477Gly Substitution 2B EBS-WC Hamada et al, 2005 11602 c.1550G>A Substitution p.Gly517Asp Substitution Tail EBS-K Yasukawa et al, 2006 9623 c.1635_1635delG Deletion p.Leu546SerfsX82 Frame shift Tail EBS-WC Sprecher et al, 2003 9624 c.1649_1649delG Deletion p.Gly550AlafsX77 Frame shift Tail EBS-MCE Gu et al, 2003 11461 c.1649_1649delG Deletion p.Gly550AlafsX77 Frame shift Tail EBS-MCE Gu et al, 2003 8971 c.1649_1649delG Deletion p.Gly550AlafsX77 Frame shift Tail Epidermolysis bullosa simplex with maternal somatic and germline mosaicism Nagao-Watanabe et al, 2004 9316 c.1649delG Deletion p.Gly550AlafsX77 Frame shift Tail EBS-MP Horiguchi et al, 2005 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 2008-12-29 12:30:41 * 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. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 11582 c.237A>T Substitution p.Arg79Ser Substitution Head Russian - Harel et al, 2006 11586 c.240A>T Substitution p.= Silent Not affected Russian - Harel et al, 2006 13222 c.382G>C Substitution p.Gly128Arg Substitution Head Hungarian 0.59 Glász-Bóna et al, 2009 13223 c.513G>A Substitution p.= Silent Not affected Hungarian 0.54 Glász-Bóna et al, 2009 11583 c.591C>A Substitution p.Asp197Glu Substitution 1A Russian - Harel et al, 2006 11587 c.594C>T Substitution p.= Silent Not affected Russian - Harel et al, 2006 13216 c.630T>C Substitution p.= Silent Not affected Hungarian 0.66 Glász-Bóna et al, 2009 11584 c.1159A>T Substitution p.Thr387Ser Substitution 2B Russian - Harel et al, 2006 Back to top