Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:58:29 * 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 17q21.1-q21.2 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 36981836 : CCCTGCACTT GGGAGCCGGT AGCACTCCTA TCACTGCTTC TCAACCCGTG : 36981787 -66 : CCCTGCACTT GGGAGCCGGT AGCACTCCTA TCACTGCTTC TCAACCCGTG : -17 36981786 : AGCTACCAGC TGTGTCATGA GCTGCAGACA GTTCTCCTCG TCCTACTTGA : 36981737 -16 : AGCTACCAGC TGTGTCATGA GCTGCAGACA GTTCTCCTCG TCCTACTTGA : 34 1 : M S C R Q F S S S Y L : 11 36981736 : GCCGCAGCGG CGGGGGTGGC GGGGGCGGCC TGGGCAGCGG GGGCAGCATA : 36981687 35 : GCCGCAGCGG CGGGGGTGGC GGGGGCGGCC TGGGCAGCGG GGGCAGCATA : 84 12 : S R S G G G G G G G L G S G G S I : 28 36981686 : AGGTCTTCCT ACAGCCGCTT CAGCTCCTCA GGGGGCGGTG GAGGAGGGGG : 36981637 85 : AGGTCTTCCT ACAGCCGCTT CAGCTCCTCA GGGGGCGGTG GAGGAGGGGG : 134 29 : R S S Y S R F S S S G G G G G G G : 45 36981636 : CCGATTCAGC TCTTCTAGTG GCTATGGTGG GGGAAGCTCT CGTGTCTGTG : 36981587 135 : CCGATTCAGC TCTTCTAGTG GCTATGGTGG GGGAAGCTCT CGTGTCTGTG : 184 46 : R F S S S S G Y G G G S S R V C : 61 VARIANTS : T : VARIANTS 36981586 : GGAGGGGAGG CGGTGGCAGT TTTGGCTACA GCTACGGCGG AGGATCTGGG : 36981537 185 : GGAGGGGAGG CGGTGGCAGT TTTGGCTACA GCTACGGCGG AGGATCTGGG : 234 62 : G R G G G G S F G Y S Y G G G S G : 78 36981536 : GGTGGTTTTA GTGCCAGTAG TTTAGGCGGT GGCTTTGGGG GTGGTTCCAG : 36981487 235 : GGTGGTTTTA GTGCCAGTAG TTTAGGCGGT GGCTTTGGGG GTGGTTCCAG : 284 79 : G G F S A S S L G G G F G G G S R : 95 36981486 : AGGTTTTGGT GGTGCTTCTG GAGGAGGCTA TAGTAGTTCT GGGGGTTTTG : 36981437 285 : AGGTTTTGGT GGTGCTTCTG GAGGAGGCTA TAGTAGTTCT GGGGGTTTTG : 334 96 : G F G G A S G G G Y S S S G G F : 111 36981436 : GAGGTGGCTT TGGTGGTGGT TCTGGAGGTG GCTTTGGTGG TGGCTATGGG : 36981387 335 : GAGGTGGCTT TGGTGGTGGT TCTGGAGGTG GCTTTGGTGG TGGCTATGGG : 384 112 : G G G F G G G S G G G F G G G Y G : 128 VARIANTS : C C : VARIANTS 36981386 : AGTGGGTTTG GGGGGTTTGG GGGCTTTGGA GGTGGTGCTG GAGGAGGTGA : 36981337 385 : AGTGGGTTTG GGGGGTTTGG GGGCTTTGGA GGTGGTGCTG GAGGAGGTGA : 434 129 : S G F G G F G G F G G G A G G G D : 145 VARIANTS : C T CT : VARIANTS VARIANTS : GG G TGA : VARIANTS 36981336 : TGGTGGTATT CTGACTGCTA ATGAGAAGAG CACCATGCAG GAACTCAATT : 36981287 435 : TGGTGGTATT CTGACTGCTA ATGAGAAGAG CACCATGCAG GAACTCAATT : 484 146 : G G I L T A N E K S T M Q E L N : 161 VARIANTS : V V K : VARIANTS VARIANTS : R F Y : VARIANTS VARIANTS : T S : VARIANTS VARIANTS : I : VARIANTS VARIANTS : H : VARIANTS VARIANTS : A d : VARIANTS VARIANTS : TC d C T A C : VARIANTS 36981286 : CTCGGCTGGC CTCTTACTTG GATAAGGTGC AGGCTCTAGA GGAGGCCAAC : 36981237 485 : CTCGGCTGGC CTCTTACTTG GATAAGGTGC AGGCTCTAGA GGAGGCCAAC : 534 162 : S R L A S Y L D K V Q A L E E A N : 178 VARIANTS : W d S X M P : VARIANTS VARIANTS : P d : VARIANTS VARIANTS : Q : VARIANTS 36981236 : AACGACCTGG AGAATAAGAT CCAGGATTGG TACGACAAGA AGGGACCTGC : 36981187 535 : AACGACCTGG AGAATAAGAT CCAGGATTGG TACGACAAGA AGGGACCTGC : 584 179 : N D L E N K I Q D W Y D K K G P A : 195 36981186 : TGCTATCCAG AAGAACTACT CCCCTTATTA TAACACTATT GATGATCTCA : 36981137 585 : TGCTATCCAG AAGAACTACT CCCCTTATTA TAACACTATT GATGATCTCA : 634 196 : A I Q K N Y S P Y Y N T I D D L : 211 36981136 : AGGACCAGGT AGGTGCAGGA AACTGTCTCT GTCTTGGTCT CTTTCTCTTT : 36981087 635 : AGGACCAG : 642 212 : K D Q : 214 36981086 : CATTCTTTAT CTTCCAAAAA AGTTAAAATG CTAAACTCTA AGCTCAGATA : 36981037 36981036 : ATAGCCAGGG AATCCACCTT TTGGAAATGT ACGCTTTCAT CAGAAACAAA : 36980987 36980986 : CTTGTGTTTG GTTTCTGGGG ATCCCAGGAT AGGACTTTGG CCTGTGCTCT : 36980937 36980936 : GAGTGTTCAC TTCCATTTCC TCAACTTTCA GAGTTTGGGC AGAGCAGAGA : 36980887 36980886 : GGAGACCTGG GTTAACGTGA GCTGAGCTGG GACTGGATGT GGAACCTCCT : 36980837 36980836 : TTAGGTTTGG TCTAAGTCAA TACTTTCTCT TCCTTTGTAC TTCTCCTGGG : 36980787 36980786 : CTTCTTTAGG AGTGTATCTT GATCTTTTAA GGTATTTTGG ACCTGACTGT : 36980737 36980736 : ACATGTTGGT TATTCAAGTG TTGGAGAGGA TCCAGAAATC TGGGAATGGA : 36980687 36980686 : AGCTATCTAT CCATCCATCC TTCCATCTAT CCCTTCCTCC CTCCACCCAC : 36980637 36980636 : ATGTCTATCT ATCTATCCAT TTATTCAGCC ACTCAGTTCA GTGAGTGCCT : 36980587 36980586 : ACCCTCAGGG TTGCTCTGGG TAGACATAGT GATGTGCTAG ACCTAGTTCT : 36980537 36980536 : GGTGGAGCTC ACGGTCTGGC TCTTCAGTAT TCTCAGTGAT TCCTCTTGTT : 36980487 36980486 : TTAACTCCTG CATGTCTCTG AATGTGCTGT TTCTTCTACT CTAAACCTCT : 36980437 36980436 : TCCATTTATT TATTAATGTT ACATCTTAGC CATCCTTCAG GGCCCAATTC : 36980387 36980386 : AATTGCCAGC CACCTCCTTC CTGAAGTCTT TCTTGATCTC CCATTGCCAT : 36980337 36980336 : AAGCCACCTC TCCTTTCCTT GAACTCTTTT AGGACACTTT TGACTTTGTA : 36980287 36980286 : GTCAATGGTG GGCTCCCTGA GGAACAGGAT GTCAGTAATC TCTAAATCCT : 36980237 36980236 : ACAATGCCCT TTGCAGTAGA TCTTCAAATA TTTGTTGAAT GAATGAATGA : 36980187 36980186 : AGGCCACACC AAACATCTTC GCTGAAGGCT GGAAGGGGTC TGTGCCATGT : 36980137 36980136 : CCCAGCTGTT GGAAGTTCCT CATTCCTCTT GAGAATCTTC CTGGATGGAA : 36980087 36980086 : TCCTCACCTC CTGTGGCTTT GCCTGGCCTC TTGCCCTCTC AGCAGTGGTC : 36980037 36980036 : CACAGCATGA TATCATGGCT GTGTCCTTTT TTTTTCAGAT TGTGGACCTG : 36979987 643 : AT TGTGGACCTG : 654 215 : I V D L : 218 36979986 : ACAGTGGGCA ACAACAAAAC TCTCCTGGAC ATTGACAACA CTCGCATGAC : 36979937 655 : ACAGTGGGCA ACAACAAAAC TCTCCTGGAC ATTGACAACA CTCGCATGAC : 704 219 : T V G N N K T L L D I D N T R M T : 235 36979936 : ACTGGATGAC TTCAGGATAA AGTGAGTCCT GCTCCTCTTC TCCTCTCCTG : 36979887 705 : ACTGGATGAC TTCAGGATAA A : 725 236 : L D D F R I K : 242 36979886 : TCATCAGCCC TTACCCCTGA ACCTCAGTGC TCTGGAGGTC CTGGTAGGGC : 36979837 36979836 : CTGGTTCCCT CTTGATTGTT TTCTAACCCT GGCTGGTCTG CAGGTTTGAG : 36979787 726 : GTTTGAG : 732 243 : F E : 244 36979786 : ATGGAGCAAA ACCTGCGGCA AGGAGTGGAT GCTGACATCA ATGGCCTGCG : 36979737 733 : ATGGAGCAAA ACCTGCGGCA AGGAGTGGAT GCTGACATCA ATGGCCTGCG : 782 245 : M E Q N L R Q G V D A D I N G L R : 261 36979736 : GCAGGTGCTG GACAATCTGA CCATGGAGAA GTCTGACCTG GAGATGCAGT : 36979687 783 : GCAGGTGCTG GACAATCTGA CCATGGAGAA GTCTGACCTG GAGATGCAGT : 832 262 : Q V L D N L T M E K S D L E M Q : 277 36979686 : ATGAGACTCT GCAGGAGGAG CTGATGGCCC TCAAGAAGAA TCATAAGGAG : 36979637 833 : ATGAGACTCT GCAGGAGGAG CTGATGGCCC TCAAGAAGAA TCATAAGGAG : 882 278 : Y E T L Q E E L M A L K K N H K E : 294 36979636 : GTAGGTTGCT GGGGCTTATG GCTTACCGGG AAGAGGGAGG AGCAGAAATG : 36979587 36979586 : CAGAGACAGC AGGGGAGCTT TGGAACATTA CCTGGGAGAC ACCCTCTCCT : 36979537 36979536 : TTGCTCTTGA GGACACTTTC AACTTCTCCT TGGCATCACC TATGGTAGTG : 36979487 36979486 : GTTGGGCTTT GGCTTCACAA CTGTGTCCCC TTTTTGTACC CTGGGGGGAC : 36979437 36979436 : CAGAGGGAGA ATTCTGAAAG GTGGTGCAGA GGACTTTATC CGTGACCTCA : 36979387 36979386 : TCTCCCCTTC TTCCCTGGCA GGAGATGAGT CAGCTGACTG GGCAGAACAG : 36979337 883 : GAGATGAGT CAGCTGACTG GGCAGAACAG : 911 295 : E M S Q L T G Q N S : 304 36979336 : TGGAGATGTC AATGTGGAGA TAAACGTTGC TCCTGGCAAA GATCTCACCA : 36979287 912 : TGGAGATGTC AATGTGGAGA TAAACGTTGC TCCTGGCAAA GATCTCACCA : 961 305 : G D V N V E I N V A P G K D L T : 320 36979286 : AGACCCTCAA TGACATGCGT CAGGAGTATG AGCAGCTCAT TGCTAAGAAC : 36979237 962 : AGACCCTCAA TGACATGCGT CAGGAGTATG AGCAGCTCAT TGCTAAGAAC : 1011 321 : K T L N D M R Q E Y E Q L I A K N : 337 36979236 : AGAAAGGACA TCGAGAATCA ATATGAGACT CAGGTGAGCA GAGTGGGCTG : 36979187 1012 : AGAAAGGACA TCGAGAATCA ATATGAGACT CAG : 1044 338 : R K D I E N Q Y E T Q : 348 36979186 : CCCATTCATC CTCCTCCCCT CCATCTATTC CTATCTCCAT CCCTCCCACC : 36979137 36979136 : TCCCATTCCT TCATCCTCCT ATCTCTGCAT CTCTCAGTGC AGCTGTCATT : 36979087 36979086 : TATCCATCTT CCAATGGAAG TCATTCATCC ATCTTCATTC ACTGCATACA : 36979037 36979036 : AACATCATTA CAAAGTAGCT TCTCAGTGCC ATGTTATATG TAAAGTATTG : 36978987 36978986 : ATGTCTCAGA GGTATTGATG TCTGATATGA GCCAAACAAG ACTGCTGCCC : 36978937 36978936 : TTGAGAAGCT CACAGTTTAT TAGATGTGTG TGAACAAAAG CAGAATGTGA : 36978887 36978886 : ACAATTTAAT CTAATGCTAT GTAATGTAAG ACTATAGCAG AGGGATACAG : 36978837 36978836 : TGTGTCTCCC ATACTGTACT GAGCTCCTTG GTGGTTCCCT TCGTCCTTGA : 36978787 36978786 : GTCTCCAGTG CCCAGCCAGA GTCTGGCACA TACATGAAGG CATGGTCTGT : 36978737 36978736 : GCTGTGTGTG TGTGTGTGTG TGTGTGTGTG TGTGTGTGTG TGTGTGTATG : 36978687 36978686 : TTTGAAAGGT GGGGGAAGTT TGGAATAAGG TTAGATTAGA AAGATGGTTG : 36978637 36978636 : TGAGACAAAG CGTGAAGGGT CTTGCAACTT TGTTGAGAGG GAATGTCATG : 36978587 36978586 : TTGAGAGGAC TGGACAACCC TCCATGGCTG GAGGGTACCC AGAACTCAGA : 36978537 36978536 : ATGACTTGTC ATTGGCTTCA GATCAGCCTT GGCCCTGGAG GTGAAGATCC : 36978487 36978486 : TGGTGAATGG GGCAGAATCT CACTCACTGA AGCTCCTGGC ACAGCCTGAT : 36978437 36978436 : GCTTACTGAG CCTTTGGTTT TGCAGATAAC CCAGATCGAG CATGAGGTAT : 36978387 1045 : ATAAC CCAGATCGAG CATGAGGTAT : 1069 349 : I T Q I E H E V : 356 36978386 : CCAGTAGTGG TCAGGAGGTG CAGTCCAGTG CCAAGGAGGT GACCCAGCTC : 36978337 1070 : CCAGTAGTGG TCAGGAGGTG CAGTCCAGTG CCAAGGAGGT GACCCAGCTC : 1119 357 : S S S G Q E V Q S S A K E V T Q L : 373 36978336 : CGGCACGGTG TCCAGGAGTT GGAGATTGAG CTGCAGTCTC AGCTCAGCAA : 36978287 1120 : CGGCACGGTG TCCAGGAGTT GGAGATTGAG CTGCAGTCTC AGCTCAGCAA : 1169 374 : R H G V Q E L E I E L Q S Q L S K : 390 36978286 : GGTTGGTAGT TCTGCTATAG ACCCTTTGCC AAGGTGGGGC ACAGGAAGTC : 36978237 1170 : G : 1170 36978236 : TTTGCAGCCC AGGAGTGGGA AGAAGAGGAG TTATGATGTA GCATCCCTCT : 36978187 36978186 : TAAAGCCTTC TCCTAACCCT TAGAAAGCAG CTCTGGAGAA GAGCTTGGAA : 36978137 1171 : AAAGCAG CTCTGGAGAA GAGCTTGGAA : 1197 391 : K A A L E K S L E : 399 36978136 : GACACGAAGA ACCGCTACTG TGGCCAGCTG CAGATGATCC AGGAGCAGAT : 36978087 1198 : GACACGAAGA ACCGCTACTG TGGCCAGCTG CAGATGATCC AGGAGCAGAT : 1247 400 : D T K N R Y C G Q L Q M I Q E Q I : 416 36978086 : CAGTAACTTG GAGGCCCAGA TCACTGACGT CCGGCAAGAG ATCGAGTGCC : 36978037 1248 : CAGTAACTTG GAGGCCCAGA TCACTGACGT CCGGCAAGAG ATCGAGTGCC : 1297 417 : S N L E A Q I T D V R Q E I E C : 432 36978036 : AGAATCAGGA ATACAGCCTT CTGCTCAGCA TTAAGATGCG GCTGGAGAAG : 36977987 1298 : AGAATCAGGA ATACAGCCTT CTGCTCAGCA TTAAGATGCG GCTGGAGAAG : 1347 433 : Q N Q E Y S L L L S I K M R L E K : 449 VARIANTS : ii T : VARIANTS 36977986 : GAAATCGAGA CCTACCACAA CCTCCTTGAG GGAGGCCAGG AAGACTTGTA : 36977937 1348 : GAAATCGAGA CCTACCACAA CCTCCTTGAG GGAGGCCAGG AAGACTT : 1394 450 : E I E T Y H N L L E G G Q E D F : 465 VARIANTS : iiii F : VARIANTS 36977936 : GGTCCCCCAG GATTTGGTGG AACCCCTGGG GGTCCCTAGG CCTCTGATAC : 36977887 36977886 : TACTTCTGTC CCTCTGGATA GAGGCAGCTG GGGGAAGTTC TTATACACAG : 36977837 36977836 : GGTCTTATGG GTTGAGGACT TCTTCATCCT GGGGGCCGGG GGGACCTCAG : 36977787 36977786 : TGCATTTGGG CTTTGGGAAA GGAGGATGGT GACACTGAGA GAACGGGCTG : 36977737 36977736 : CCTCCCTGCT CCAGGGAGGG GAGGGCTCCA CAGTCTCAGC TGGAGGCTCT : 36977687 36977686 : CCTCTCCCAG CTGTGGTGCC CGCCCAGACT CTGTCCTCTG CCTCCCAGGA : 36977637 36977636 : AGGAAAACAG AAAGATTCAT GTTTGGGTCC TGACTCTGTC CAGGTCCATC : 36977587 36977586 : CTCATATATG TGTATGGGGG CCGCTCATTT TAACTCTCTT GTTTTCTTTC : 36977537 36977536 : TTTCTTAGTG AATCCTCCGG AGCTGGAAAA ATTGGCCTTG GAGGTCGAGG : 36977487 1395 : TG AATCCTCCGG AGCTGGAAAA ATTGGCCTTG GAGGTCGAGG : 1436 466 : E S S G A G K I G L G G R G : 479 36977486 : AGGAAGTGGA GGCAGTTATG GAAGAGGATC CAGGGGAGGA AGTGGAGGCA : 36977437 1437 : AGGAAGTGGA GGCAGTTATG GAAGAGGATC CAGGGGAGGA AGTGGAGGCA : 1486 480 : G S G G S Y G R G S R G G S G G : 495 36977436 : GCTATGGTGG AGGAGGAAGT GGAGGTGGCT ATGGTGGAGG AAGTGGGTCC : 36977387 1487 : GCTATGGTGG AGGAGGAAGT GGAGGTGGCT ATGGTGGAGG AAGTGGGTCC : 1536 496 : S Y G G G G S G G G Y G G G S G S : 512 36977386 : AGGGGAGGAA GTGGAGGCAG CTACGGTGGA GGAAGTGGTT CTGGAGGAGG : 36977337 1537 : AGGGGAGGAA GTGGAGGCAG CTACGGTGGA GGAAGTGGTT CTGGAGGAGG : 1586 513 : R G G S G G S Y G G G S G S G G G : 529 36977336 : TAGTGGAGGT GGCTATGGTG GAGGAAGTGG AGGTGGCCAT AGCGGAGGAA : 36977287 1587 : TAGTGGAGGT GGCTATGGTG GAGGAAGTGG AGGTGGCCAT AGCGGAGGAA : 1636 530 : S G G G Y G G G S G G G H S G G : 545 36977286 : GTGGAGGTGG TCATAGTGGA GGAAGTGGGG GCAACTATGG AGGAGGAAGT : 36977237 1637 : GTGGAGGTGG TCATAGTGGA GGAAGTGGGG GCAACTATGG AGGAGGAAGT : 1686 546 : S G G G H S G G S G G N Y G G G S : 562 36977236 : GGCTCTGGAG GAGGAAGTGG GGGTGGCTAT GGTGGAGGAA GTGGGTCCAG : 36977187 1687 : GGCTCTGGAG GAGGAAGTGG GGGTGGCTAT GGTGGAGGAA GTGGGTCCAG : 1736 563 : G S G G G S G G G Y G G G S G S R : 579 36977186 : GGGAGGAAGT GGAGGCAGCC ATGGTGGAGG AAGTGGTTTT GGAGGTGAAA : 36977137 1737 : GGGAGGAAGT GGAGGCAGCC ATGGTGGAGG AAGTGGTTTT GGAGGTGAAA : 1786 580 : G G S G G S H G G G S G F G G E : 595 36977136 : GTGGAGGCAG CTACGGAGGC GGTGAAGAAG CGAGTGGAAG TGGTGGCGGC : 36977087 1787 : GTGGAGGCAG CTACGGAGGC GGTGAAGAAG CGAGTGGAAG TGGTGGCGGC : 1836 596 : S G G S Y G G G E E A S G S G G G : 612 36977086 : TACGGAGGAG GAAGCGGAAA ATCATCCCAT TCCTAGTCTT CTTCCTCAAA : 36977037 1837 : TACGGAGGAG GAAGCGGAAA ATCATCCCAT TCCTAGTCTT CTTCCTCAAA : *14 613 : Y G G G S G K S S H S : 623 36977036 : ATCTGGTGAC CAAGATGAGA CAAAAGGTAA GGGACAATCC TAGGTTGTGG : 36976987 *15 : ATCTGGTGAC CAAGATGAGA CAAAAG : *40 36976986 : GGTGGAGAGT CAAGGTCTCA CCTTTTTTTT TTTTTGAGTA TTTTTGAATC : 36976937 36976936 : TCTGGGGAAC ACAGATTCTG AATAGAGCTA GATGTTAGGG AAATCTCTAG : 36976887 36976886 : TGAGGTGTCA GAGACCTACC CTTGGTTCTG AATTGATCAT TATTTTTGAC : 36976837 36976836 : AGAGCCTAGG ATGAGGCTAG GACCAAATCT ACACATGGCT GAGTCTCAGT : 36976787 36976786 : AGTGTAGGAG ATGGGTTGAA AATTGTGCAT TATCATGACA CACGCTATGA : 36976737 36976736 : GGTAGGTTTT ATTATAATCC CCATTTTAAG GAAAATGAGG TTCAGAGAAA : 36976687 36976686 : ATAATTTGCT CAAAGTCATA CAATCACAAA TGAAGGGTTC AGCTCTGTGG : 36976637 36976636 : GGCTTCACAG CCAGTACTTT CAACCTTCAT GAGGATGGGG GACCTGGATC : 36976587 36976586 : AGCAACAGTT CAGGTGGAAA AGAGACTCAG GGATTTTAGT CAGTGGTTGG : 36976537 36976536 : CTTGCACAAG TATTACATGA TGCAACTGCC AAAAGGATGA ACATAATCTA : 36976487 36976486 : AATGTAAGAA AGGCTCACAC AGGTGAGTTG GTCTCTAGAT CAGGGAACAT : 36976437 36976436 : TTTCCCATGT ACACATTGAA TTTTATAAAA TAAAAATGTA ATATGAAATT : 36976387 36976386 : ATAGGAAAAG CCTGGGTAAT ATAACTGGGA ATGTTTAGCT CAGAGAAGAC : 36976337 36976336 : TTGAGGTGCT TGGGAGCTGC CCTGCAGGGT GTCTAATGTG GTTTTGTGAG : 36976287 36976286 : TCCAGTGGCA CTGCAGGTCC ATGGATATAC ATCTAGGAGT GAGGCTGGGG : 36976237 36976236 : CCATCTTTTG CCTCAATATC CAAAAAATTG ACTAACAAAT CTGTTGAATG : 36976187 36976186 : GAGGGGGCTG CCTCATAAGC CCCCCATCCT CAGACTTGGG GGTGCATCTG : 36976137 36976136 : TCAGGTTTGC TGCAACAGAG ATTCAGGAAT TAGATGGGGA CCAGTAGATT : 36976087 36976086 : GGGAGACCCC AGGGTCCTTC TACCTCAGGA TTGTCCAGCT CTTTGAGCTC : 36976037 36976036 : TAGTGTCCTT GCTTCGAGTT TCCCCATCTT CCCCCAAGTC CCAACCTCTC : 36975987 36975986 : TGCTCCTGCT TACAGTCCTC CCTTCTCCCC CTCATCTCCC TTCCATCTCT : 36975937 36975936 : CCACAGGCTT CCTTTCGCGA TACTAGAGCC TCTGTAAACT TCTCCTGCCC : 36975887 *41 : GCTT CCTTTCGCGA TACTAGAGCC TCTGTAAACT TCTCCTGCCC : *84 36975886 : AGCCCCAGCT GAGCATCCCC AGATGGGCAG ACTCCCGATG AAGCCTGCTT : 36975837 *85 : AGCCCCAGCT GAGCATCCCC AGATGGGCAG ACTCCCGATG AAGCCTGCTT : *134 36975836 : ATTGGATCCT GACATCAGGA ATAGCTGGCA ACAAGCCCCT GTGCCCGTTT : 36975787 *135 : ATTGGATCCT GACATCAGGA ATAGCTGGCA ACAAGCCCCT GTGCCCGTTT : *184 36975786 : GGGACTGAAC TGACTTGGCA TATGTGCCTC TGGCTTTCCA TTGGCTTCCA : 36975737 *185 : GGGACTGAAC TGACTTGGCA TATGTGCCTC TGGCTTTCCA TTGGCTTCCA : *234 36975736 : ACCCTGCTTG GCTTTGATGC CTTCAGGGTT GGGGAGACAG ACCTCTTTCC : 36975687 *235 : ACCCTGCTTG GCTTTGATGC CTTCAGGGTT GGGGAGACAG ACCTCTTTCC : *284 36975686 : TCTCTCTGGC CTGGGGTGCT CTCACACCCT GCACGATCTT GACTATAATA : 36975637 *285 : TCTCTCTGGC CTGGGGTGCT CTCACACCCT GCACGATCTT GACTATAATA : *334 36975636 : AAGCTTCCCT ACTGCAAA : 36975619 *335 : AAGCTTCCCT ACTGCAAA : *352 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:58:29 RefSeq ID NM_000226.3 GI 189409118 Length 2290 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -66 CCCTGCACTT GGGAGCCGGT AGCACTCCTA TCACTGCTTC TCAACCCGTG -17 -16 AGCTACCAGC TGTGTCATGA GCTGCAGACA GTTCTCCTCG TCCTACTTGA 34 35 GCCGCAGCGG CGGGGGTGGC GGGGGCGGCC TGGGCAGCGG GGGCAGCATA 84 85 AGGTCTTCCT ACAGCCGCTT CAGCTCCTCA GGGGGCGGTG GAGGAGGGGG 134 135 CCGATTCAGC TCTTCTAGTG GCTATGGTGG GGGAAGCTCT CGTGTCTGTG 184 185 GGAGGGGAGG CGGTGGCAGT TTTGGCTACA GCTACGGCGG AGGATCTGGG 234 235 GGTGGTTTTA GTGCCAGTAG TTTAGGCGGT GGCTTTGGGG GTGGTTCCAG 284 285 AGGTTTTGGT GGTGCTTCTG GAGGAGGCTA TAGTAGTTCT GGGGGTTTTG 334 335 GAGGTGGCTT TGGTGGTGGT TCTGGAGGTG GCTTTGGTGG TGGCTATGGG 384 385 AGTGGGTTTG GGGGGTTTGG GGGCTTTGGA GGTGGTGCTG GAGGAGGTGA 434 435 TGGTGGTATT CTGACTGCTA ATGAGAAGAG CACCATGCAG GAACTCAATT 484 485 CTCGGCTGGC CTCTTACTTG GATAAGGTGC AGGCTCTAGA GGAGGCCAAC 534 535 AACGACCTGG AGAATAAGAT CCAGGATTGG TACGACAAGA AGGGACCTGC 584 585 TGCTATCCAG AAGAACTACT CCCCTTATTA TAACACTATT GATGATCTCA 634 635 AGGACCAGAT TGTGGACCTG ACAGTGGGCA ACAACAAAAC TCTCCTGGAC 684 685 ATTGACAACA CTCGCATGAC ACTGGATGAC TTCAGGATAA AGTTTGAGAT 734 735 GGAGCAAAAC CTGCGGCAAG GAGTGGATGC TGACATCAAT GGCCTGCGGC 784 785 AGGTGCTGGA CAATCTGACC ATGGAGAAGT CTGACCTGGA GATGCAGTAT 834 835 GAGACTCTGC AGGAGGAGCT GATGGCCCTC AAGAAGAATC ATAAGGAGGA 884 885 GATGAGTCAG CTGACTGGGC AGAACAGTGG AGATGTCAAT GTGGAGATAA 934 935 ACGTTGCTCC TGGCAAAGAT CTCACCAAGA CCCTCAATGA CATGCGTCAG 984 985 GAGTATGAGC AGCTCATTGC TAAGAACAGA AAGGACATCG AGAATCAATA 1034 1035 TGAGACTCAG ATAACCCAGA TCGAGCATGA GGTATCCAGT AGTGGTCAGG 1084 1085 AGGTGCAGTC CAGTGCCAAG GAGGTGACCC AGCTCCGGCA CGGTGTCCAG 1134 1135 GAGTTGGAGA TTGAGCTGCA GTCTCAGCTC AGCAAGAAAG CAGCTCTGGA 1184 1185 GAAGAGCTTG GAAGACACGA AGAACCGCTA CTGTGGCCAG CTGCAGATGA 1234 1235 TCCAGGAGCA GATCAGTAAC TTGGAGGCCC AGATCACTGA CGTCCGGCAA 1284 1285 GAGATCGAGT GCCAGAATCA GGAATACAGC CTTCTGCTCA GCATTAAGAT 1334 1335 GCGGCTGGAG AAGGAAATCG AGACCTACCA CAACCTCCTT GAGGGAGGCC 1384 1385 AGGAAGACTT TGAATCCTCC GGAGCTGGAA AAATTGGCCT TGGAGGTCGA 1434 1435 GGAGGAAGTG GAGGCAGTTA TGGAAGAGGA TCCAGGGGAG GAAGTGGAGG 1484 1485 CAGCTATGGT GGAGGAGGAA GTGGAGGTGG CTATGGTGGA GGAAGTGGGT 1534 1535 CCAGGGGAGG AAGTGGAGGC AGCTACGGTG GAGGAAGTGG TTCTGGAGGA 1584 1585 GGTAGTGGAG GTGGCTATGG TGGAGGAAGT GGAGGTGGCC ATAGCGGAGG 1634 1635 AAGTGGAGGT GGTCATAGTG GAGGAAGTGG GGGCAACTAT GGAGGAGGAA 1684 1685 GTGGCTCTGG AGGAGGAAGT GGGGGTGGCT ATGGTGGAGG AAGTGGGTCC 1734 1735 AGGGGAGGAA GTGGAGGCAG CCATGGTGGA GGAAGTGGTT TTGGAGGTGA 1784 1785 AAGTGGAGGC AGCTACGGAG GCGGTGAAGA AGCGAGTGGA AGTGGTGGCG 1834 1835 GCTACGGAGG AGGAAGCGGA AAATCATCCC ATTCCTAGTC TTCTTCCTCA *12 *13 AAATCTGGTG ACCAAGATGA GACAAAAGGC TTCCTTTCGC GATACTAGAG *62 *63 CCTCTGTAAA CTTCTCCTGC CCAGCCCCAG CTGAGCATCC CCAGATGGGC *112 *113 AGACTCCCGA TGAAGCCTGC TTATTGGATC CTGACATCAG GAATAGCTGG *162 *163 CAACAAGCCC CTGTGCCCGT TTGGGACTGA ACTGACTTGG CATATGTGCC *212 *213 TCTGGCTTTC CATTGGCTTC CAACCCTGCT TGGCTTTGAT GCCTTCAGGG *262 *263 TTGGGGAGAC AGACCTCTTT CCTCTCTCTG GCCTGGGGTG CTCTCACACC *312 *313 CTGCACGATC TTGACTATAA TAAAGCTTCC CTACTGCAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:58:29 RefSeq ID NP_000217.2 GI 55956899 Isoelectric Point 4.8867 Molecular Weight 62064.2 Daltons Length 623 amino acids Download File | Text Sequence 1 MSCRQFSSSY LSRSGGGGGG GLGSGGSIRS SYSRFSSSGG GGGGGRFSSS 50 51 SGYGGGSSRV CGRGGGGSFG YSYGGGSGGG FSASSLGGGF GGGSRGFGGA 100 101 SGGGYSSSGG FGGGFGGGSG GGFGGGYGSG FGGFGGFGGG AGGGDGGILT 150 151 ANEKSTMQEL NSRLASYLDK VQALEEANND LENKIQDWYD KKGPAAIQKN 200 201 YSPYYNTIDD LKDQIVDLTV GNNKTLLDID NTRMTLDDFR IKFEMEQNLR 250 251 QGVDADINGL RQVLDNLTME KSDLEMQYET LQEELMALKK NHKEEMSQLT 300 301 GQNSGDVNVE INVAPGKDLT KTLNDMRQEY EQLIAKNRKD IENQYETQIT 350 351 QIEHEVSSSG QEVQSSAKEV TQLRHGVQEL EIELQSQLSK KAALEKSLED 400 401 TKNRYCGQLQ MIQEQISNLE AQITDVRQEI ECQNQEYSLL LSIKMRLEKE 450 451 IETYHNLLEG GQEDFESSGA GKIGLGGRGG SGGSYGRGSR GGSGGSYGGG 500 501 GSGGGYGGGS GSRGGSGGSY GGGSGSGGGS GGGYGGGSGG GHSGGSGGGH 550 551 SGGSGGNYGG GSGSGGGSGG GYGGGSGSRG GSGGSHGGGS GFGGESGGSY 600 601 GGGEEASGSG GGYGGGSGKS SHS Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 153 1A 154 188 L1 189 200 1B 201 301 L12 302 317 2A 318 336 L2 337 344 2B 345 465 Tail 466 623 Back to top

MONOCLONAL ANTIBODIES
Information last updated on 2008-08-26 10:41:56 Clone Name Species Reported Specificity Epitope Reference Ks9.216 mouse K9 - Langbein et al, 1993 Ks9.70 mouse K9 - Langbein et al, 1993 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 47911. Information last updated on 2007-08-17 12:20:36 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 420041 XM_418163.2 XP_418163.2 Vertebrates Rattus norvegicus 266717 NM_153476.1 NP_703206.1 Rodents Mus musculus 107656 NM_201255.1 NP_957707.1 Rodents Pan troglodytes 454664 XM_511488.2 XP_511488.2 Primates Anopheles gambiae 1276980 XM_557037.2 XP_557037.1 Invertebrates Canis familiaris 490980 NM_001014285.1 NP_001014307.1 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 2009-11-30 16:10:20 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Epidermolytic palmoplantar keratoderma EPPK #144200 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 2009-11-30 16:10:20 * 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 13684 c.470T>C Substitution p.Met157Thr Substitution - EPPK Chen et al, 2009 14121 c.487C>T Substitution p.Arg163Trp Substitution - EPPK Funakushi et al, 2009 14123 c.470T>A Substitution p.Met157Lys Substitution - EPPK Shimomura et al, 2009 14126 c.470T>C Substitution p.Met157Thr Substitution - EPPK Shimomura et al, 2009 14127 c.470T>C Substitution p.Met157Thr Substitution - EPPK Shimomura et al, 2009 14129 c.488G>A Substitution p.Arg163Gln Substitution - EPPK Shimomura et al, 2009 14132 c.1360T>C Substitution p.Tyr454His Substitution - EPPK Shimomura et al, 2009 9445 c.469A>G Substitution p.Met157Val Substitution 1A EPPK Hennies et al, 1994 11300 c.469A>G Substitution p.Met157Val Substitution 1A EPPK Hennies et al, 1994 9476 c.469A>G Substitution p.Met157Val Substitution 1A EPPK Covello et al, 1998 9477 c.469A>G Substitution p.Met157Val Substitution 1A EPPK Covello et al, 1998 9460 c.469A>G Substitution p.Met157Val Substitution 1A EPPK Rugg et al, 2002 9478 c.470T>C Substitution p.Met157Thr Substitution 1A EPPK Covello et al, 1998 11609 c.470T>G Substitution p.Met157Arg Substitution 1A EPPK Shimazu et al, 2006 13077 c.470T>G Substitution p.Met157Arg Substitution 1A EPPK Zhao et al, 2008 9485 c.478C>G Substitution p.Leu160Val Substitution 1A EPPK Endo et al, 1997 9465 c.478C>T Substitution p.Leu160Phe Substitution 1A EPPK Lu et al, 2003 9438 c.481A>T Substitution p.Asn161Tyr Substitution 1A EPPK Torchard et al, 1994 9466 c.481A>C Substitution p.Asn161His Substitution 1A EPPK Lee et al, 2003 8991 c.481A>C Substitution p.Asn161His Substitution 1A EPPK Lin et al, 2004 9450 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Bonifas et al, 1994 9459 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Amichai et al, 2002 9464 c.482A>T Substitution p.Asn161Ile Substitution 1A EPPK Küster et al, 2002 9248 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Tsunemi et al, 2002 9467 c.482A>T Substitution p.Asn161Ile Substitution 1A EPPK Csikós et al, 2003 11463 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Lee et al, 2003 9278 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Zhang et al, 2004 11779 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Yin et al, 2007 12420 c.482A>G Substitution p.Asn161Ser Substitution 1A EPPK Hamada et al, 2005 9439 c.483T>A Substitution p.Asn161Lys Substitution 1A EPPK Reis et al, 1994 13229 c.484C>T Substitution p.Pro162Ser Substitution 1A EPPK Li et al, 2008 9440 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Reis et al, 1994 11297 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Reis et al, 1994 11298 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Reis et al, 1994 9451 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Bonifas et al, 1994 9500 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Navsaria et al, 1995 11306 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Navsaria et al, 1995 9498 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Rothnagel et al, 1995 9473 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Yang et al, 1998 9492 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Mayuzumi et al, 1999 9516 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Morgan et al, 1999 9525 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Warmuth et al, 2000 9461 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Rugg et al, 2002 8374 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Yang et al, 2003 11464 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Lee et al, 2003 11465 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Lee et al, 2003 11466 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Lee et al, 2003 8378 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Terrinoni et al, 2004 11483 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Terrinoni et al, 2004 11484 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Terrinoni et al, 2004 11726 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK Chiu et al, 2007 13385 c.487C>T Substitution p.Arg163Trp Substitution 1A EPPK 1 et al, 2008 9443 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Reis et al, 1994 9480 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Kobayashi et al, 1996 9474 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Yang et al, 1998 9479 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Covello et al, 1998 9519 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Szalai et al, 1999 9462 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Rugg et al, 2002 8369 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Wennerstrand et al, 2003 8375 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Yang et al, 2003 8992 c.488G>C Substitution p.Arg163Pro Substitution 1A EPPK Kon et al, 2005 9146 c.488G>A Substitution p.Arg163Gln Substitution 1A EPPK Sun et al, 2005 8990 c.500_500delAinsGGCT Indel p.Tyr167delinsTrpLeu Indel 1A EPPK He et al, 2004 9294 c.500delAinsGGCT Indel p.Tyr167delinsTrpLeu Indel 1A EPPK Zhang et al, 2005 11503 c.500delAinsGGCT Indel p.Tyr167delinsTrpLeu Indel 1A EPPK Zhang et al, 2005 11504 c.500delAinsGGCT Indel p.Tyr167delinsTrpLeu Indel 1A EPPK Zhang et al, 2005 9499 c.503T>C Substitution p.Leu168Ser Substitution 1A EPPK Rothnagel et al, 1995 11780 c.503T>C Substitution p.Leu168Ser Substitution 1A EPPK Yin et al, 2007 12056 c.503T>C Substitution p.Leu168Ser Substitution 1A EPPK Li et al, 2007 9520 c.508A>T Substitution p.Lys170X Substitution 1A EPPK Szalai et al, 1999 9463 c.511G>A Substitution p.Val171Met Substitution 1A EPPK Rugg et al, 2002 9447 c.515A>C Substitution p.Gln172Pro Substitution 1A EPPK Hennies et al, 1994 9375 c.1362_1363insCAC Insertion p.Tyr454_His455insHis Insertion 2B EPPK Coleman et al, 1999 11611 c.1372C>T Substitution p.Leu458Phe Substitution 2B EPPK Kon 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 2007-01-29 18:33:54 * 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 11729 c.216C>T Substitution p.= Silent Not affected - - Chiu et al, 2007 8366 c.426A>C Substitution p.= Silent Not affected - - Rugg et al, 2002 11730 c.429A>C Substitution p.= Silent Not affected - - Chiu et al, 2007 Back to top