Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:00:07 * 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 17q12-q21 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 36996673 : ACCCGAGCAC CTTCTCTTCA CTCAGCCAAC TGCTCGCTCG CTCACCTCCC : 36996624 -61 : ACCCGAGCAC CTTCTCTTCA CTCAGCCAAC TGCTCGCTCG CTCACCTCCC : -12 VARIANTS : d T : VARIANTS 36996623 : TCCTCTGCAC CATGACCACC TGCAGCCGCC AGTTCACCTC CTCCAGCTCC : 36996574 -11 : TCCTCTGCAC CATGACTACC TGCAGCCGCC AGTTCACCTC CTCCAGCTCC : 39 1 : M T T C S R Q F T S S S S : 13 VARIANTS : f X : VARIANTS VARIANTS : A : VARIANTS 36996573 : ATGAAGGGCT CCTGCGGCAT CGGGGGCGGC ATCGGGGGCG GCTCCAGCCG : 36996524 40 : ATGAAGGGCT CCTGCGGCAT CGGGGGCGGC ATCGGGGGCG GCTCCAGCCG : 89 14 : M K G S C G I G G G I G G G S S R : 30 VARIANTS : X : VARIANTS VARIANTS : d C : VARIANTS 36996523 : CATCTCCTCC GTCCTGGCCG GAGGGTCCTG CCGCGCCCCC AGCACCTACG : 36996474 90 : CATCTCCTCC GTCCTGGCCG GAGGGTCCTG CCGCGCCCCC AGCACCTACG : 139 31 : I S S V L A G G S C R A P S T Y : 46 VARIANTS : f f : VARIANTS 36996473 : GGGGCGGCCT GTCTGTCTCA TCCTCCCGCT TCTCCTCTGG GGGAGCCTGC : 36996424 140 : GGGGCGGCCT GTCTGTCTCA TCCTCCCGCT TCTCCTCTGG GGGAGCCTAC : 189 47 : G G G L S V S S S R F S S G G A Y : 63 36996423 : GGGCTGGGGG GCGGCTATGG CGGTGGCTTC AGCAGCAGCA GCAGCAGCTT : 36996374 190 : GGGCTGGGGG GCGGCTATGG CGGTGGCTTC AGCAGCAGCA GCAGCAGCTT : 239 64 : G L G G G Y G G G F S S S S S S F : 80 VARIANTS : ii : VARIANTS 36996373 : TGGTAGTGGC TTTGGGGGAG GATATGGTGG TGGCCTTGGT GCTGGCTTGG : 36996324 240 : TGGTAGTGGC TTTGGGGGAG GATATGGTGG TGGCCTTGGT GCTGGCTTGG : 289 81 : G S G F G G G Y G G G L G A G L : 96 VARIANTS : f : VARIANTS VARIANTS : dd : VARIANTS 36996323 : GTGGTGGCTT TGGTGGTGGC TTTGCTGGTG GTGATGGGCT TCTGGTGGGC : 36996274 290 : GTGGTGGCTT TGGTGGTGGC TTTGCTGGTG GTGATGGGCT TCTGGTGGGC : 339 97 : G G G F G G G F A G G D G L L V G : 113 VARIANTS : f : VARIANTS VARIANTS : G C GA ddd : VARIANTS VARIANTS : G C GCA C T GA TC GG C : VARIANTS 36996273 : AGTGAGAAGG TGACCATGCA GAACCTCAAT GACCGCCTGG CCTCCTACCT : 36996224 340 : AGTGAGAAGG TGACCATGCA GAACCTCAAT GACCGCCTGG CCTCCTACCT : 389 114 : S E K V T M Q N L N D R L A S Y L : 130 VARIANTS : N T P F S P d D P : VARIANTS VARIANTS : E V R K H C : VARIANTS VARIANTS : I C : VARIANTS VARIANTS : G : VARIANTS VARIANTS : A : VARIANTS VARIANTS : C : VARIANTS VARIANTS : TCT TC A dC C : VARIANTS 36996223 : GGACAAGGTG CGTGCTCTGG AGGAGGCCAA CGCCGACCTG GAAGTGAAGA : 36996174 390 : GGACAAGGTG CGTGCTCTGG AGGAGGCCAA CGCCGACCTG GAAGTGAAGA : 439 131 : D K V R A L E E A N A D L E V K : 146 VARIANTS : L C Q f A : VARIANTS VARIANTS : L P P : VARIANTS VARIANTS : L : VARIANTS VARIANTS : A : VARIANTS VARIANTS : M : VARIANTS VARIANTS : T : VARIANTS 36996173 : TCCGTGACTG GTACCAGAGG CAGCGGCCTG CTGAGATCAA AGACTACAGT : 36996124 440 : TCCGTGACTG GTACCAGAGG CAGCGGCCTG CTGAGATCAA AGACTACAGT : 489 147 : I R D W Y Q R Q R P A E I K D Y S : 163 VARIANTS : C : VARIANTS 36996123 : CCCTACTTCA AGACCATTGA GGACCTGAGG AACAAGGTGG GTGAATGGGC : 36996074 490 : CCCTACTTCA AGACCATTGA GGACCTGAGG AACAAG : 525 164 : P Y F K T I E D L R N K : 175 36996073 : AGCAGAAGGC ACCATTCCAG CTAGCTCCTT CTGGGAACAA TTCATGCCCC : 36996024 36996023 : AGGCCCCTGA GACCTTAAGA TTTCTCTATA GGACAGAGTC CACCCCAGAT : 36995974 36995973 : CCCTTCTTTC GAGGTCTTGG ATGCCCTAAG ACTGATCAGT GAGAAGATGC : 36995924 36995923 : TTTCCCTTCC CCAGCCTCCT CATCCCCTTC TGATCTCAAA TCCTCAGACC : 36995874 36995873 : ATGTGAGATC AGTGATTCCT ATCCTTACAT TTTTTAGAGG AAGCAGTTGA : 36995824 36995823 : AGCTTCGAGA GGTGCTGTGA CCAGCTGCAG GTCACATAGC AAATTAATGG : 36995774 36995773 : CAGAGCCAAG GCTGGGGCCC TTGTGCCCTA CCTTCCAGCA CAGGAGGCAG : 36995724 36995723 : CTACTTGTTC TCCAGCACAG GGGAGGAGTG AGGCTCTAAC GGGACCAGGC : 36995674 36995673 : AAGACATCCA AACCACTCAT TAGCTCACTA GTCTGGGCTG TGGCTGCCGC : 36995624 36995623 : CGCCCATAAG CCTTGGTACA GGCTGGTCCC TCCCCACAGC CAGGCGGGCA : 36995574 36995573 : TGGAGAGCCT GCAGAGACAA TTAGTGTGGT CCCTTGATGT GCCCTGCACA : 36995524 36995523 : GAGAGAGCCT GGCAGGCTTG TGCCCTGACT CTAGCCCCCT CCTCCCTGCT : 36995474 36995473 : CCCACATTAC TTGGGAGCCC TCCCTGCTGG AGTCTGTTGG GCTCTAATGA : 36995424 36995423 : CTTGCATGGA TTAGGGAAAT TCAATGATGA GGTGGGGAAA TCCAACCAGA : 36995374 36995373 : CTCAGGGGCC AATATATCTT CTTATTCTTC CCCTGAGTCC TCTTTTCTAA : 36995324 36995323 : TCCCCTGTGT TAGTTGGGTT TTATCTCTTG AGAAAGTTCC ACTTGAAGTC : 36995274 36995273 : CCATGGCCTG TGAGCTTGAA AAGGAATGTG CATATCTGCA GAGGACTGGC : 36995224 36995223 : AGGGCTGGCT GATGCAGACA GAAGAGAGGT CAGCTCAGGA AGGAGGGCTA : 36995174 36995173 : GGGAGCCTCA GATTATTCTC CTCACCTGGA GGTGGGGAAC TTGAAGCCCC : 36995124 36995123 : AAGACCCATT AGGTTTTGCA GCAAGACACT GGCAGAATTG GGACCAGAAC : 36995074 36995073 : TCCTGGGCTT TCGATTCTAA GCCCGGGGCT GCATCTACCC CCTCTGTTGA : 36995024 36995023 : CCATGAGTTA GCAAAGTCTT AGGACAGGCC TGGGGCATCT GTTTTCCTTT : 36994974 36994973 : GGGCTGCTAT GGTCAAGTTT TGTGGGGGAA AAGGGGGATT CAGGCAAGAA : 36994924 36994923 : CATGAAGCAA GAGCTTAATG TAGGCTACAG TGAAGTCCAG CTTGTGAAGT : 36994874 VARIANTS : C Gdddddd : VARIANTS 36994873 : CCATTTGACA AATTACCTGT GCCTTTTCCA TCCTGCAGAT TCTCACAGCC : 36994824 526 : AT TCTCACAGCC : 537 176 : I L T A : 179 VARIANTS : M dddd : VARIANTS VARIANTS : f : VARIANTS VARIANTS : f : VARIANTS VARIANTS : A : VARIANTS 36994823 : ACAGTGGACA ATGCCAATGT CCTTCTGCAG ATTGACAATG CCCGTCTGGC : 36994774 538 : ACAGTGGACA ATGCCAATGT CCTTCTGCAG ATTGACAATG CCCGTCTGGC : 587 180 : T V D N A N V L L Q I D N A R L A : 196 VARIANTS : M : VARIANTS 36994773 : CGCGGATGAC TTCCGCACCA AGTGAGTTTG AAATGGTGGG CCAGAACATC : 36994724 588 : CGCGGATGAC TTCCGCACCA A : 608 197 : A D D F R T K : 203 36994723 : CAGTGTCCCC AGAGTAGGGC ATTTTTGGAG CAGTGTTTCC CAAATAGAAC : 36994674 36994673 : TAGCCAGTAC CAGGATAGGT GCATGAAAAC TCCCTGGGGT GCTTATAAAA : 36994624 36994623 : GAATAAGACT CTTGGGCCCC ACCCTTGGAG TTTTGATTCA GCTATTTATA : 36994574 36994573 : GCAGGTTACC TGGGTGATTC TGGTCCACAG CCAGGTTTCA GAACCGCTGC : 36994524 36994523 : TTTAGGGAGA GGCACTTTCC ACTTCCCCAG CTGCCCTTGA AGTATAGGAA : 36994474 36994473 : GGAATCATAG TTGGAGGACT TCTGCATTAT TTGTTGGCTG AAGCTAGAAG : 36994424 36994423 : TGCAACCCCC TCCTGATTTC TGCAGCAAGA TGAACTGCCT TATCCCCAGC : 36994374 36994373 : CCGCAGGAAT GTTCATATCT GAGCAATCAA TGGGCACTGT GTTCAACCAC : 36994324 36994323 : GCCATTTTCA AGATTGGCTC CTTAAACCAC CCACAAGGCA CCAGCTCTGG : 36994274 36994273 : GAGAAGCTGC AGGGAGAAGA GAACAAAGCC CTCGCTGTGA TCAGGATGGG : 36994224 VARIANTS : A : VARIANTS 36994223 : TGTCTCATAC CTTTTCTCTG GGGTCATTCC AGGTATGAGA CAGAGTTGAA : 36994174 609 : GTATGAGA CAGAGTTGAA : 626 204 : Y E T E L N : 209 VARIANTS : X : VARIANTS VARIANTS : C : VARIANTS 36994173 : CCTGCGCATG AGTGTGGAAG CCGACATCAA TGGCCTGCGC AGGGTGCTGG : 36994124 627 : CCTGCGCATG AGTGTGGAAG CCGACATCAA TGGCCTGCGC AGGGTGCTGG : 676 210 : L R M S V E A D I N G L R R V L : 225 VARIANTS : P : VARIANTS 36994123 : ACGAACTGAC CCTGGCCAGA GCTGACCTGG AGATGCAGAT TGAGAGCCTG : 36994074 677 : ACGAACTGAC CCTGGCCAGA GCTGACCTGG AGATGCAGAT TGAGAGCCTG : 726 226 : D E L T L A R A D L E M Q I E S L : 242 VARIANTS : d : VARIANTS 36994073 : AAGGAGGAGC TGGCCTACCT GAAGAAGAAC CACGAGGAGG TGAGAACTAT : 36994024 727 : AAGGAGGAGC TGGCCTACCT GAAGAAGAAC CACGAGGAG : 765 243 : K E E L A Y L K K N H E E : 255 VARIANTS : X : VARIANTS 36994023 : ATGGAAAAGT CAGCTTAAAA GAAATGCAGG GAGGCTGGGT ACAGTGGTGC : 36993974 36993973 : GTGCCCATAG TCCCAGCTAC TTGGGAGGCT GAGACAGGAG GATCACTTGA : 36993924 36993923 : ACACAGGAGT TTGAGTCCAG CCTGGGCAAC AAGGCTAGAC CCTGTCCAAA : 36993874 36993873 : AAAAAAAAAA AAAAAAAAAA AAAAAAGAGA GAGAGAGAGA GAGATTGAGA : 36993824 36993823 : GAGAGAGAGA GAAGGGAGAG TCGAGATAGA ATTGTGATGG TGGGAGGGCA : 36993774 36993773 : GTATTCAGGC CTAAGGAACA CCAATCCGCT GCCATGGTGG AACTCCTGAC : 36993724 36993723 : TGTGGACTGT CCCTGGCTGT GCAGGAGATG AATGCCCTGA GAGGCCAGGT : 36993674 766 : GAGATG AATGCCCTGA GAGGCCAGGT : 791 256 : E M N A L R G Q V : 264 VARIANTS : C : VARIANTS VARIANTS : A G G A : VARIANTS 36993673 : GGGTGGAGAT GTCAATGTGG AGATGGACGC TGCACCTGGC GTGGACCTGA : 36993624 792 : GGGTGGAGAT GTCAATGTGG AGATGGACGC TGCACCTGGC GTGGACCTGA : 841 265 : G G D V N V E M D A A P G V D L : 280 VARIANTS : M R G D : VARIANTS VARIANTS : T : VARIANTS 36993623 : GCCGCATTCT GAACGAGATG CGTGACCAGT ATGAGAAGAT GGCAGAGAAG : 36993574 842 : GCCGCATTCT GAACGAGATG CGTGACCAGT ATGAGAAGAT GGCAGAGAAG : 891 281 : S R I L N E M R D Q Y E K M A E K : 297 VARIANTS : A : VARIANTS VARIANTS : A A : VARIANTS 36993573 : AACCGCAAGG ATGCCGAGGA ATGGTTCTTC ACCAAGGTGG GTGTCATTTG : 36993524 892 : AACCGCAAGG ATGCCGAGGA ATGGTTCTTC ACCAAG : 927 298 : N R K D A E E W F F T K : 309 VARIANTS : X : VARIANTS VARIANTS : d dddddddddd ddddd : VARIANTS 36993523 : AGGTGGAAGG AACCCAGACC ACCTGCCTTC TGGGGCCTTC TGGTGTGAAT : 36993474 36993473 : GGCATTCTCT TTTTTGCAGA CAGAGGAGCT GAACCGCGAG GTGGCCACCA : 36993424 928 : A CAGAGGAGCT GAACCGCGAG GTGGCCACCA : 958 310 : T E E L N R E V A T : 319 36993423 : ACAGCGAGCT GGTGCAGAGC GGCAAGAGCG AGATCTCGGA GCTCCGGCGC : 36993374 959 : ACAGCGAGCT GGTGCAGAGC GGCAAGAGCG AGATCTCGGA GCTCCGGCGC : 1008 320 : N S E L V Q S G K S E I S E L R R : 336 36993373 : ACCATGCAGA ACCTGGAGAT TGAGCTGCAG TCCCAGCTCA GCATGGTAGG : 36993324 1009 : ACCATGCAGA ACCTGGAGAT TGAGCTGCAG TCCCAGCTCA GCATG : 1053 337 : T M Q N L E I E L Q S Q L S M : 351 36993323 : AATAGTGCCA GGAAGGGTGG TGCACCCAGG ACTGGCAGGG AGAGAACGGC : 36993274 36993273 : CACACTCACT AATCGTTGAT TCCCTTTCCC TCCCTCACAG AAAGCATCCC : 36993224 1054 : AAAGCATCCC : 1063 352 : K A S : 354 36993223 : TGGAGAACAG CCTGGAGGAG ACCAAAGGTC GCTACTGCAT GCAGCTGGCC : 36993174 1064 : TGGAGAACAG CCTGGAGGAG ACCAAAGGTC GCTACTGCAT GCAGCTGGCC : 1113 355 : L E N S L E E T K G R Y C M Q L A : 371 VARIANTS : C : VARIANTS VARIANTS : A A : VARIANTS VARIANTS : d dd C C TA : VARIANTS 36993173 : CAGATCCAGG AGATGATTGG CAGCGTGGAG GAGCAGCTGG CCCAGCTCCG : 36993124 1114 : CAGATCCAGG AGATGATTGG CAGCGTGGAG GAGCAGCTGG CCCAGCTCCG : 1163 372 : Q I Q E M I G S V E E Q L A Q L R : 388 VARIANTS : d T P H : VARIANTS VARIANTS : N C : VARIANTS VARIANTS : H : VARIANTS VARIANTS : H : VARIANTS VARIANTS : T : VARIANTS VARIANTS : T : VARIANTS 36993123 : CTGCGAGATG GAGCAGCAGA ACCAGGAGTA CAAGATCCTG CTGGACGTGA : 36993074 1164 : CTGCGAGATG GAGCAGCAGA ACCAGGAGTA CAAGATCCTG CTGGACGTGA : 1213 389 : C E M E Q Q N Q E Y K I L L D V : 404 VARIANTS : X : VARIANTS VARIANTS : X : VARIANTS VARIANTS : T : VARIANTS VARIANTS : ddd A : VARIANTS VARIANTS : d A A A A C G dC C G A : VARIANTS 36993073 : AGACGCGGCT GGAGCAGGAG ATCGCCACCT ACCGCCGCCT GCTGGAGGGC : 36993024 1214 : AGACGCGGCT GGAGCAGGAG ATCGCCACCT ACCGCCGCCT GCTGGAGGGC : 1263 405 : K T R L E Q E I A T Y R R L L E G : 421 VARIANTS : f M K N T C P P V Q : VARIANTS VARIANTS : d T H f : VARIANTS VARIANTS : X : VARIANTS VARIANTS : A : VARIANTS 36993023 : GAGGACGCCC AGTGAGTCTT GGCCCTCCCC TTAGTCCGCC CCCCCCATGG : 36992974 1264 : GAGGACGCCC A : 1274 422 : E D A H : 425 VARIANTS : K : VARIANTS 36992973 : CACTCTCACG GCCCCACCAT GTATCTAATG ATCCTGTCCT TTTCTATTTT : 36992924 36992923 : CACAGCCTCT CCTCCTCCCA GTTCTCCTCT GGATCGCAGT CATCCAGAGA : 36992874 1275 : CCTCT CCTCCTCCCA GTTCTCCTCT GGATCGCAGT CATCCAGAGA : 1319 426 : L S S S Q F S S G S Q S S R D : 440 36992873 : TGGTAAGACC CTCCTCCTCT GCAGGCCTGG GCTCCAGGCC ACCCTCTGTA : 36992824 1320 : TG : 1321 36992823 : CCCCAAGCAG GTCTAGGCAT TGGCTAGGGG CTCCGTGAGG GGCTGAGCTC : 36992774 36992773 : TAGTGCTGTC ACCCAGTTTC CCTTGTGAAC CTCCTTGGGT GGAAGAAGCT : 36992724 36992723 : ATTTTCTAAA CCCTCCTTAG GGCTAGGAGA GGCAGCCCCC ACCTCTTGCT : 36992674 36992673 : TCTACGTGGT GTCTGTGGCA GATCCTATTG CTGTTGTGGT CAGCACCATG : 36992624 36992623 : AACAGGGCCC TACAGGGCTC TTCCCACTGA GACCACTCCA TTGGGTGAAT : 36992574 36992573 : ATGGATGGAA CCAGCCAGGT GTGAGCTCTT AGGAAGCTCT AATCTGAGGG : 36992524 36992523 : CAAAGACTCT GTCTCTGACC TTTGGGAGCC CTCGTCTGAA AGAAATGTGT : 36992474 36992473 : TGATGGTATC AGTGCTTGGG CAACAGCAGG GAGTGAAGCA GTAATCAGGG : 36992424 36992423 : GAGAGGGCAA TGGGGAGCCA GTTTGAGTTT CCTCACCTTC TTGGCCTCCT : 36992374 36992373 : TACTCCTGAT TAGTCCATTG TCTGTCCACC TCTGGTAACG TCCTCTTCCC : 36992324 36992323 : ACCTCTTCCC CAGTGACCTC CTCCAGCCGC CAAATCCGCA CCAAGGTCAT : 36992274 1322 : TGACCTC CTCCAGCCGC CAAATCCGCA CCAAGGTCAT : 1358 441 : V T S S S R Q I R T K V M : 453 36992273 : GGATGTGCAC GATGGCAAGG TGGTGTCCAC CCACGAGCAG GTCCTTCGCA : 36992224 1359 : GGATGTGCAC GATGGCAAGG TGGTGTCCAC CCACGAGCAG GTCCTTCGCA : 1408 454 : D V H D G K V V S T H E Q V L R : 469 36992223 : CCAAGAACTG AGGCTGCCCA GCCCCGCTCA GGCCTAGGAG GCCCCCCGTG : 36992174 1409 : CCAAGAACTG AGGCTGCCCA GCCCCGCTCA GGCCTAGGAG GCCCCCCGTG : *39 470 : T K N : 472 36992173 : TGGACACAGA TCCCACTGGA AGATCCCCTC TCCTGCCCAA GCACTTCACA : 36992124 *40 : TGGACACAGA TCCCACTGGA AGATCCCCTC TCCTGCCCAA GCACTTCACA : *89 36992123 : GCTGGACCCT GCTTCACCCT CACCCCCTCC TGGCAATCAA TACAGCTTCA : 36992074 *90 : GCTGGACCCT GCTTCACCCT CACCCCCTCC TGGCAATCAA TACAGCTTCA : *139 36992073 : TTATCTGAGT TGCAT : 36992059 *140 : TTATCTGAGT TGCAT : *154 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:00:07 RefSeq ID NM_000526.3 GI 15431309 Length 1634 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -61 ACCCGAGCAC CTTCTCTTCA CTCAGCCAAC TGCTCGCTCG CTCACCTCCC -12 -11 TCCTCTGCAC CATGACTACC TGCAGCCGCC AGTTCACCTC CTCCAGCTCC 39 40 ATGAAGGGCT CCTGCGGCAT CGGGGGCGGC ATCGGGGGCG GCTCCAGCCG 89 90 CATCTCCTCC GTCCTGGCCG GAGGGTCCTG CCGCGCCCCC AGCACCTACG 139 140 GGGGCGGCCT GTCTGTCTCA TCCTCCCGCT TCTCCTCTGG GGGAGCCTAC 189 190 GGGCTGGGGG GCGGCTATGG CGGTGGCTTC AGCAGCAGCA GCAGCAGCTT 239 240 TGGTAGTGGC TTTGGGGGAG GATATGGTGG TGGCCTTGGT GCTGGCTTGG 289 290 GTGGTGGCTT TGGTGGTGGC TTTGCTGGTG GTGATGGGCT TCTGGTGGGC 339 340 AGTGAGAAGG TGACCATGCA GAACCTCAAT GACCGCCTGG CCTCCTACCT 389 390 GGACAAGGTG CGTGCTCTGG AGGAGGCCAA CGCCGACCTG GAAGTGAAGA 439 440 TCCGTGACTG GTACCAGAGG CAGCGGCCTG CTGAGATCAA AGACTACAGT 489 490 CCCTACTTCA AGACCATTGA GGACCTGAGG AACAAGATTC TCACAGCCAC 539 540 AGTGGACAAT GCCAATGTCC TTCTGCAGAT TGACAATGCC CGTCTGGCCG 589 590 CGGATGACTT CCGCACCAAG TATGAGACAG AGTTGAACCT GCGCATGAGT 639 640 GTGGAAGCCG ACATCAATGG CCTGCGCAGG GTGCTGGACG AACTGACCCT 689 690 GGCCAGAGCT GACCTGGAGA TGCAGATTGA GAGCCTGAAG GAGGAGCTGG 739 740 CCTACCTGAA GAAGAACCAC GAGGAGGAGA TGAATGCCCT GAGAGGCCAG 789 790 GTGGGTGGAG ATGTCAATGT GGAGATGGAC GCTGCACCTG GCGTGGACCT 839 840 GAGCCGCATT CTGAACGAGA TGCGTGACCA GTATGAGAAG ATGGCAGAGA 889 890 AGAACCGCAA GGATGCCGAG GAATGGTTCT TCACCAAGAC AGAGGAGCTG 939 940 AACCGCGAGG TGGCCACCAA CAGCGAGCTG GTGCAGAGCG GCAAGAGCGA 989 990 GATCTCGGAG CTCCGGCGCA CCATGCAGAA CCTGGAGATT GAGCTGCAGT 1039 1040 CCCAGCTCAG CATGAAAGCA TCCCTGGAGA ACAGCCTGGA GGAGACCAAA 1089 1090 GGTCGCTACT GCATGCAGCT GGCCCAGATC CAGGAGATGA TTGGCAGCGT 1139 1140 GGAGGAGCAG CTGGCCCAGC TCCGCTGCGA GATGGAGCAG CAGAACCAGG 1189 1190 AGTACAAGAT CCTGCTGGAC GTGAAGACGC GGCTGGAGCA GGAGATCGCC 1239 1240 ACCTACCGCC GCCTGCTGGA GGGCGAGGAC GCCCACCTCT CCTCCTCCCA 1289 1290 GTTCTCCTCT GGATCGCAGT CATCCAGAGA TGTGACCTCC TCCAGCCGCC 1339 1340 AAATCCGCAC CAAGGTCATG GATGTGCACG ATGGCAAGGT GGTGTCCACC 1389 1390 CACGAGCAGG TCCTTCGCAC CAAGAACTGA GGCTGCCCAG CCCCGCTCAG *20 *21 GCCTAGGAGG CCCCCCGTGT GGACACAGAT CCCACTGGAA GATCCCCTCT *70 *71 CCTGCCCAAG CACTTCACAG CTGGACCCTG CTTCACCCTC ACCCCCTCCT *120 *121 GGCAATCAAT ACAGCTTCAT TATCTGAGTT GCAT Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:00:07 RefSeq ID NP_000517.2 GI 15431310 Isoelectric Point 4.8074 Molecular Weight 51621.4 Daltons Length 472 amino acids Download File | Text Sequence 1 MTTCSRQFTS SSSMKGSCGI GGGIGGGSSR ISSVLAGGSC RAPSTYGGGL 50 51 SVSSSRFSSG GAYGLGGGYG GGFSSSSSSF GSGFGGGYGG GLGAGLGGGF 100 101 GGGFAGGDGL LVGSEKVTMQ NLNDRLASYL DKVRALEEAN ADLEVKIRDW 150 151 YQRQRPAEIK DYSPYFKTIE DLRNKILTAT VDNANVLLQI DNARLAADDF 200 201 RTKYETELNL RMSVEADING LRRVLDELTL ARADLEMQIE SLKEELAYLK 250 251 KNHEEEMNAL RGQVGGDVNV EMDAAPGVDL SRILNEMRDQ YEKMAEKNRK 300 301 DAEEWFFTKT EELNREVATN SELVQSGKSE ISELRRTMQN LEIELQSQLS 350 351 MKASLENSLE ETKGRYCMQL AQIQEMIGSV EEQLAQLRCE MEQQNQEYKI 400 401 LLDVKTRLEQ EIATYRRLLE GEDAHLSSSQ FSSGSQSSRD VTSSSRQIRT 450 451 KVMDVHDGKV VSTHEQVLRT KN Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 115 1A 116 150 L1 151 161 1B 162 262 L12 263 278 2A 279 297 L2 298 305 2B 306 426 Tail 427 472 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-01-21 11:22:25 Clone Name Species Reported Specificity Epitope Reference 8.7 mouse K14, K17 - Vos et al, 1992, Vos et al, 1993 AE1 mouse K10, K14, K15, K16, K19 within 1B domain Woodcock-Mitchell et al, 1982, Dhouailly et al, 1989, Böttger et al, 1995 CKB1 mouse K14 - Osborn et al, 1986 IVD3A9 mouse K14 - Moll et al, 1988 KA1 mouse K5, K14, K18, K19 - Nagle et al, 1986, Jarasch et al, 1988, Upasani et al, 2004 KA4 mouse K14, K15, K16, K19 within 1B domain Nagle et al, 1985, Böttger et al, 1995 KS13.1 mouse K13, K14, K15 - Moll et al, 1988 LH6 mouse K14 - Purkis et al, 1990 LH8 mouse K14 - Purkis et al, 1990 LL001 mouse K14 - Purkis et al, 1990 LL002 mouse K14 - Wetzels et al, 1989 OV-TL 12/5 mouse K5, K7, K14, K19 - Ramaekers et al, 1990 RCK107 mouse K5, K14 - Wetzels et al, 1991 SK 2-27 mouse K14, K16, K17 - Cintorino et al, 1988 Back to top

RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT

The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 81522. Information last updated on 2007-08-17 12:21:48 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 287701 NM_001008751.1 NP_001008751.1 Rodents Mus musculus 16664 NM_016958.1 NP_058654.1 Rodents 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 2009-11-05 16:34:15 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Dermatopathia pigmentosa reticularis DPR #125595 Epidermolysis bullosa simplex with mottled pigmentation EBS-MP #131960 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 Naegeli-Franceschetti-Jadassohn syndrome NFJS #161000 Recessive epidermolysis bullosa simplex REBS #601001 Recessive epidermolysis bullosa simplex, Koebner type REBS-K #131900 Recessive epidermolysis bullosa simplex, Weber-Cockayne type REBS-WC #131800 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 2009-11-05 16:34:15 * 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 14026 c.374G>T Substitution p.Arg125Leu Substitution - EBS-DM Ołdak et al, 2009 11612 c.17delG Deletion p.Arg6ProfsX9 Frame shift Head NFJS Lugassy et al, 2006 11638 c.19C>T Substitution p.Gln7X Substitution Head NFJS Lugassy et al, 2006 11639 c.19C>T Substitution p.Gln7X Substitution Head NFJS Lugassy et al, 2006 11640 c.19C>T Substitution p.Gln7X Substitution Head NFJS Lugassy et al, 2006 11637 c.54C>A Substitution p.Cys18X Substitution Head DPR Lugassy et al, 2006 9342 c.92delT Deletion p.Ile31ThrfsX87 Frame shift Head REBS Batta et al, 2000 11590 c.129dupC Duplication p.Ser44GlnfsX39 Frame shift Head EBS-K Has et al, 2006 9269 c.242_243insG Insertion p.Gly81GlyfsX2 Frame shift Head EBS-DM Smith et al, 2004 9340 c.313_314delGC Deletion p.Ala105TrpfsX3 Frame shift Head REBS-K Rugg et al, 1994 11683 c.346A>G Substitution p.Lys116Glu Substitution 1A EBS-K Rugg et al, 2007 8536 c.348G>C Substitution p.Lys116Asn Substitution 1A EBS-DM Sørensen et al, 1999 11342 c.348G>C Substitution p.Lys116Asn Substitution 1A EBS-DM Sørensen et al, 1999 11343 c.348G>C Substitution p.Lys116Asn Substitution 1A EBS-DM Sørensen et al, 1999 8556 c.355A>G Substitution p.Met119Val Substitution 1A EBS-K Cummins et al, 2001 11605 c.355A>G Substitution p.Met119Val Substitution 1A EBS-WC Yasukawa et al, 2006 9493 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-WC Chen et al, 1995 8533 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-DM Shemanko et al, 1998 8555 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-DM Cummins et al, 2001 9103 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-DM Titeux et al, 2006 11519 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-DM Titeux et al, 2006 11588 c.356T>C Substitution p.Met119Thr Substitution 1A EBS-MP Harel et al, 2006 8531 c.357G>A Substitution p.Met119Ile Substitution 1A EBS-DM Hu et al, 1997 8514 c.359A>G Substitution p.Gln120Arg Substitution 1A EBS-DM Chen et al, 1995 9078 c.359A>C Substitution p.Gln120Pro Substitution 1A EBS-K Pfendner et al, 2005 8508 c.364C>T Substitution p.Leu122Phe Substitution 1A EBS-K Yamanishi et al, 1994 11571 c.364C>T Substitution p.Leu122Phe Substitution 1A EBS-DM Müller et al, 2006 11572 c.364C>T Substitution p.Leu122Phe Substitution 1A EBS-DM Müller et al, 2006 11672 c.364C>T Substitution p.Leu122Phe Substitution 1A EBS-DM Rugg et al, 2007 11743 c.364C>T Substitution p.Leu122Phe Substitution 1A EBS-DM Horn and Tidman, 2000 8535 c.368A>G Substitution p.Asn123Ser Substitution 1A EBS-DM Sørensen et al, 1999 11537 c.368A>G Substitution p.Asn123Ser Substitution 1A EBS-DM Pfendner et al, 2005 11538 c.368A>G Substitution p.Asn123Ser Substitution 1A EBS-DM Pfendner et al, 2005 11539 c.368A>G Substitution p.Asn123Ser Substitution 1A EBS-DM Pfendner et al, 2005 11540 c.368A>G Substitution p.Asn123Ser Substitution 1A EBS-DM Pfendner et al, 2005 9099 c.369T>A Substitution p.Asn123Lys Substitution 1A EBS-DM Csikós et al, 2004 11564 c.369T>A Substitution p.Asn123Lys Substitution 1A EBS-DM Müller et al, 2006 8504 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Coulombe et al, 1991 8510 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Hachisuka et al, 1995 8515 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Chen et al, 1995 11316 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Chen et al, 1995 11317 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Chen et al, 1995 11318 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Chen et al, 1995 8528 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Stephens et al, 1993 8530 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Umeki et al, 1996 8541 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Sasaki et al, 1999 8547 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Hut et al, 2000 11368 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Hut et al, 2000 8550 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Rugg et al, 2000 8552 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Rugg et al, 2000 8554 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Ning et al, 2001 8557 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Premaratne et al, 2002 8566 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Pfendner et al, 2003 11454 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Pfendner et al, 2003 11455 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Pfendner et al, 2003 9100 c.373C>G Substitution p.Arg125Gly Substitution 1A EBS-DM Csikós et al, 2004 11554 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Abu Sa'd et al, 2006 11573 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Müller et al, 2006 11574 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Müller et al, 2006 11575 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Müller et al, 2006 11576 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Müller et al, 2006 11607 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Yasukawa et al, 2006 11673 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Rugg et al, 2007 11674 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Rugg et al, 2007 11740 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Horn and Tidman, 2000 12053 c.373C>T Substitution p.Arg125Cys Substitution 1A EBS-DM Li et al, 2007 13408 c.373C>T Substitution p.Arg125Cys Substitution 1A DPR Goh et al, 2009 8505 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Coulombe et al, 1991 8524 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Stephens et al, 1993 11320 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Stephens et al, 1993 11321 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Stephens et al, 1993 11322 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Stephens et al, 1993 8542 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Shemanko et al, 2000 8549 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Hut et al, 2000 8565 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Ciubotaru et al, 2003 11577 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Müller et al, 2006 11578 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Müller et al, 2006 11606 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Yasukawa et al, 2006 11666 c.374G>C Substitution p.Arg125Pro Substitution 1A EBS-DM Morley et al, 2003 11675 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Rugg et al, 2007 11741 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Horn and Tidman, 2000 11742 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Horn and Tidman, 2000 11781 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Frangu et al, 2006 13233 c.374G>A Substitution p.Arg125His Substitution 1A EBS-DM Wu and Xiao, 2008 9600 c.383_385delCCT Deletion p.Ser128del Deletion 1A EBS-DM Wood et al, 2003 8529 c.385T>G Substitution p.Tyr129Asp Substitution 1A EBS-DM Chan et al, 1996 11684 c.386A>G Substitution p.Tyr129Cys Substitution 1A EBS-K Rugg et al, 2007 8563 c.389T>C Substitution p.Leu130Pro Substitution 1A EBS-DM Schuilenga-Hut et al, 2003 11579 c.389T>C Substitution p.Leu130Pro Substitution 1A EBS-DM Müller et al, 2006 9101 c.397G>T Substitution p.Val133Leu Substitution 1A EBS-WC Csikós et al, 2004 8966 c.397G>A Substitution p.Val133Met Substitution 1A EBS-WC Hamada et al, 2005 11678 c.397G>A Substitution p.Val133Met Substitution 1A EBS-WC Rugg et al, 2007 11679 c.397G>A Substitution p.Val133Met Substitution 1A EBS-WC Rugg et al, 2007 11680 c.397G>C Substitution p.Val133Leu Substitution 1A EBS-K Rugg et al, 2007 11685 c.398T>C Substitution p.Val133Ala Substitution 1A EBS-K Rugg et al, 2007 11565 c.399G>T Substitution p.Val133Leu Substitution 1A EBS-K Müller et al, 2006 11566 c.399G>T Substitution p.Val133Leu Substitution 1A EBS-K Müller et al, 2006 8965 c.400C>T Substitution p.Arg134Cys Substitution 1A EBS-WC Indelman et al, 2005 8553 c.401G>C Substitution p.Arg134Pro Substitution 1A EBS-K Rugg et al, 2000 13211 c.407T>A Substitution p.Leu136Gln Substitution 1A EBS-WC Glász-Bóna et al, 2009 11589 c.427delC Deletion p.Leu143TrpfsX3 Frame shift 1A EBS-K Has et al, 2006 8539 c.428T>C Substitution p.Leu143Pro Substitution 1A EBS-DM Sørensen et al, 1999 8509 c.431A>C Substitution p.Glu144Ala Substitution 1A REBS-WC Hovnanian et al, 1993 8560 c.442C>T Substitution p.Arg148Cys Substitution 1A EBS-WC Wood et al, 2003 9341 c.526-2A>C Substitution p.[Ile176ValfsX2, Ile176ProfsX30] Frame shift 1B REBS-K Jonkman et al, 1996 9597 c.526-2A>C Substitution p.[Ile176ValfsX2, Ile176ProfsX30] Frame shift 1B REBS Hut et al, 2000 11369 c.526-2A>C Substitution p.[Ile176ValfsX2, Ile176ProfsX30] Frame shift 1B REBS Hut et al, 2000 8964 c.528T>G Substitution p.Ile176Met Substitution 1B REBS Schuilenga-Hut et al, 2002 8963 c.529_534delCTCACA Deletion p.Leu177_Thr178del Deletion 1B REBS Schuilenga-Hut et al, 2002 8507 c.612T>A Substitution p.Tyr204X Substitution 1B REBS-K Chan et al, 1994 13231 c.612T>A Substitution p.Tyr204X Substitution 1B REBS-K Yiasemides et al, 2008 11567 c.632G>C Substitution p.Arg211Pro Substitution 1B EBS-WC Müller et al, 2006 9599 c.744delCinsAG Indel p.Tyr248X Substitution 1B REBS-K Lanschuetzer et al, 2003 8506 c.808G>A Substitution p.Val270Met Substitution L12 EBS-WC Rugg et al, 1993 11551 c.808G>A Substitution p.Val270Met Substitution L12 EBS-WC Abu Sa'd et al, 2006 11552 c.808G>A Substitution p.Val270Met Substitution L12 EBS-WC Abu Sa'd et al, 2006 11676 c.808G>A Substitution p.Val270Met Substitution L12 EBS-WC Rugg et al, 2007 8523 c.815T>G Substitution p.Met272Arg Substitution L12 EBS-K Humphries et al, 1993 11568 c.815T>C Substitution p.Met272Thr Substitution L12 EBS-K Müller et al, 2006 8534 c.818A>G Substitution p.Asp273Gly Substitution L12 EBS-WC Müller et al, 1998 8519 c.821C>A Substitution p.Ala274Asp Substitution L12 EBS-WC Chen et al, 1995 11319 c.821C>A Substitution p.Ala274Asp Substitution L12 EBS-WC Chen et al, 1995 8532 c.915G>A Substitution p.Trp305X Substitution L2 REBS-K Corden et al, 1998 9604 c.915G>A Substitution p.Trp305X Substitution L2 EBS-K Ciubotaru et al, 2003 11553 c.915G>A Substitution p.Trp305X Substitution L2 EBS-K Abu Sa'd et al, 2006 9343 c.927+1G>A Substitution p.? Unknown Not affected EBS-K Schuilenga-Hut et al, 2003 11705 c.927+1G>A Substitution p.Glu304_Lys309del Deletion L2, 2B EBS-WC Han et al, 2006 9339 c.1123_1125delGAG Deletion p.Glu375del Deletion 2B EBS-WC Chen et al, 1993 8521 c.1130T>A Substitution p.Ile377Asn Substitution 2B EBS-WC Chen et al, 1995 11686 c.1130T>C Substitution p.Ile377Thr Substitution 2B EBS-WC Rugg et al, 2007 8503 c.1151T>C Substitution p.Leu384Pro Substitution 2B EBS-K Bonifas et al, 1992 8511 c.1151T>C Substitution p.Leu384Pro Substitution 2B EBS-K Hachisuka et al, 1995 11315 c.1151T>C Substitution p.Leu384Pro Substitution 2B EBS-K Hachisuka et al, 1995 11580 c.1151T>C Substitution p.Leu384Pro Substitution 2B EBS-K Müller et al, 2006 12058 c.1151T>C Substitution p.Leu384Pro Substitution 2B EBS-K Bonifas et al, 1991 8522 c.1162C>T Substitution p.Arg388Cys Substitution 2B EBS-WC Chen et al, 1995 11681 c.1162C>T Substitution p.Arg388Cys Substitution 2B EBS-WC Rugg et al, 2007 13212 c.1162C>T Substitution p.Arg388Cys Substitution 2B EBS-WC Glász-Bóna et al, 2009 9603 c.[1163G>A; =]+[=; 1186C>T] Substitution p.[Arg388His; =]+[=; Gln396X] Substitution 2B REBS-WC Ciubotaru et al, 2003 11548 c.1163G>A Substitution p.Arg388His Substitution 2B EBS-WC Abu Sa'd et al, 2006 11550 c.1163G>C Substitution p.Arg388His Substitution 2B EBS-WC Abu Sa'd et al, 2006 11427 c.1186C>T Substitution p.Gln396X Substitution 2B EBS-K Ciubotaru et al, 2003 11581 c.1218_1218delG Deletion p.Thr406GlyfsX35 Frame shift 2B EBS-K, EBS-WC Müller et al, 2006 8562 c.1222C>A Substitution p.Leu408Met Substitution 2B EBS-WC Schuilenga-Hut et al, 2003 8558 c.1231G>T Substitution p.Glu411X Substitution 2B EBS-K Gu et al, 2002 11569 c.1231_1233delGAG Deletion p.Glu411del Deletion 2B EBS-WC Müller et al, 2006 13213 c.1231G>A Substitution p.Glu411Lys Substitution 2B EBS-DM Glász-Bóna et al, 2009 13214 c.1235T>A Substitution p.Ile412Asn Substitution 2B EBS-DM Glász-Bóna et al, 2009 8559 c.1237G>A Substitution p.Ala413Thr Substitution 2B EBS-K Chao et al, 2002 8543 c.1243T>C Substitution p.Tyr415His Substitution 2B EBS-K Hut et al, 2000 8551 c.1243T>C Substitution p.Tyr415His Substitution 2B EBS-DM Rugg et al, 2000 11549 c.1243T>C Substitution p.Tyr415His Substitution 2B EBS-DM Abu Sa'd et al, 2006 9602 c.1244A>G Substitution p.Tyr415Cys Substitution 2B EBS-WC Ciubotaru et al, 2003 9291 c.1246_1246delC Deletion p.Arg416AlafsX26 Frame shift 2B EBS-DM Titeux et al, 2006 8561 c.1247G>C Substitution p.Arg416Pro Substitution 2B EBS-DM Wood et al, 2003 11570 c.1250G>C Substitution p.Arg417Pro Substitution 2B EBS-DM Müller et al, 2006 11687 c.1252C>G Substitution p.Leu418Val Substitution 2B EBS-K Rugg et al, 2007 8544 c.1256T>A Substitution p.Leu419Gln Substitution 2B EBS-DM Hut et al, 2000 8564 c.1256T>A Substitution p.Leu419Gln Substitution 2B EBS-DM Schuilenga-Hut et al, 2003 8545 c.1264G>A Substitution p.Glu422Lys Substitution 2B EBS-WC Hut et al, 2000 11367 c.1264G>A Substitution p.Glu422Lys Substitution 2B EBS-WC Hut et al, 2000 Back to top

ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-10-16 16:16:04 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 13682 c.88C>T Substitution p.Arg30Lys Substitution - Hindoestan - Flohil et al, 2009 8540 c.369T>C Substitution p.= Silent Not affected Danish - Sørensen et al, 1999 9102 c.369T>C Substitution p.= Silent Not affected Hungarian - Csikós et al, 2004 9105 c.369T>C Substitution p.= Silent Not affected Caucasian - Titeux et al, 2006 11585 c.369T>C Substitution p.= Silent Not affected Russian - Harel et al, 2006 12613 c.369T>C Substitution p.= Silent Not affected Chinese - Yuan et al, 2008 13215 c.369T>C Substitution p.= Silent Not affected Hungarian 0.38 Glász-Bóna et al, 2009 11651 c.[556G>A]+[1237G>A] Substitution p.[Val186Met]+[Ala413Thr] Substitution 1B, 2B Japanese - Hattori et al, 2006 11641 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11642 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11643 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11644 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11645 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11646 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11647 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 11660 c.1237G>A Substitution p.Ala413Thr Substitution 2B Japanese - Hattori et al, 2006 Back to top