Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:01:07 * 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 17q21 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 36232373 : CAGCATCACC ATGTCTGTTC GATACAGCTC AAGCAAGCAC TACTCTTCCT : 36232324 -10 : CAGCATCACC ATGTCTGTTC GATACAGCTC AAGCAAGCAC TACTCTTCCT : 40 1 : M S V R Y S S S K H Y S S : 13 36232323 : CCCGCAGTGG AGGAGGAGGA GGAGGAGGAG GATGTGGAGG AGGAGGAGGA : 36232274 41 : CCCGCAGTGG AGGAGGAGGA GGAGGAGGAG GATGTGGAGG AGGAGGAGGA : 90 14 : S R S G G G G G G G G C G G G G G : 30 36232273 : GTGTCATCCC TAAGAATTTC TAGCAGCAAA GGCTCCCTTG GTGGAGGATT : 36232224 91 : GTGTCATCCC TAAGAATTTC TAGCAGCAAA GGCTCCCTTG GTGGAGGATT : 140 31 : V S S L R I S S S K G S L G G G F : 47 36232223 : TAGCTCAGGG GGGTTCAGTG GTGGCTCTTT TAGCCGTGGG AGCTCTGGTG : 36232174 141 : TAGCTCAGGG GGGTTCAGTG GTGGCTCTTT TAGCCGTGGG AGCTCTGGTG : 190 48 : S S G G F S G G S F S R G S S G : 63 36232173 : GGGGCTGCTT TGGGGGCTCA TCAGGTGGCT ATGGAGGATT AGGAGGTTTT : 36232124 191 : GGGGCTGCTT TGGGGGCTCA TCAGGTGGCT ATGGAGGATT AGGAGGTTTT : 240 64 : G G C F G G S S G G Y G G L G G F : 80 36232123 : GGTGGAGGTA GCTTTCGTGG AAGCTATGGA AGTAGCAGCT TTGGTGGGAG : 36232074 241 : GGTGGAGGTA GCTTTCGTGG AAGCTATGGA AGTAGCAGCT TTGGTGGGAG : 290 81 : G G G S F R G S Y G S S S F G G S : 97 36232073 : TTATGGAGGC ATCTTTGGAG GGGGCAGTTT CGGAGGTGGC AGCTTTGGTG : 36232024 291 : TTATGGAGGC AGCTTTGGAG GGGGCAGTTT CGGAGGTGGC AGCTTTGGTG : 340 98 : Y G G S F G G G S F G G G S F G : 113 36232023 : GGGGCAGCTT TGGTGGAGGC GGCTTTGGTG GAGGCGGCTT TGGAGGAGGC : 36231974 341 : GGGGCAGCTT TGGTGGAGGC GGCTTTGGTG GAGGCGGCTT TGGAGGAGGC : 390 114 : G G S F G G G G F G G G G F G G G : 130 36231973 : TTTGGTGGTG GATTTGGAGG AGATGGTGGC CTTCTCTCTG GAAATGAAAA : 36231924 391 : TTTGGTGGTG GATTTGGAGG AGATGGTGGC CTTCTCTCTG GAAATGAAAA : 440 131 : F G G G F G G D G G L L S G N E K : 147 VARIANTS : A : VARIANTS VARIANTS : ddT : VARIANTS VARIANTS : C GC dddddd : VARIANTS VARIANTS : G G C TA C GC C : VARIANTS 36231923 : AGTAACCATG CAGAATCTGA ATGACCGCCT GGCTTCCTAC TTGGACAAAG : 36231874 441 : AGTAACCATG CAGAATCTGA ATGACCGCCT GGCTTCCTAC TTGGACAAAG : 490 148 : V T M Q N L N D R L A S Y L D K : 163 VARIANTS : R V H C P S S : VARIANTS VARIANTS : T H D dddd : VARIANTS VARIANTS : G : VARIANTS VARIANTS : P : VARIANTS VARIANTS : L : VARIANTS VARIANTS : dddd : VARIANTS VARIANTS : S : VARIANTS 36231873 : TTCGGGCTCT GGAAGAATCA AACTATGAGC TGGAAGGCAA AATCAAGGAG : 36231824 491 : TTCGGGCTCT GGAAGAATCA AACTATGAGC TGGAAGGCAA AATCAAGGAG : 540 164 : V R A L E E S N Y E L E G K I K E : 180 36231823 : TGGTATGAAA AGCATGGCAA CTCACATCAG GGGGAGCCTC GTGACTACAG : 36231774 541 : TGGTATGAAA AGCATGGCAA CTCACATCAG GGGGAGCCTC GTGACTACAG : 590 181 : W Y E K H G N S H Q G E P R D Y S : 197 36231773 : CAAATACTAC AAAACCATCG ATGACCTTAA AAATCAGGTA AGAGGTATTT : 36231724 591 : CAAATACTAC AAAACCATCG ATGACCTTAA AAATCAG : 627 198 : K Y Y K T I D D L K N Q : 209 36231723 : TTAAATCCAG CTTTAAGTAT CTTGTCCATG TAATCCAGAC AGATGAATCT : 36231674 36231673 : TAAATTAAGC ACAATGTGGC TGTTCACTAT GCTTACCCAT GTTACTTTCT : 36231624 36231623 : TCCTTCAAAA ATAACCCAGT CTCATCAAAG ATAAACATCT GTGAAACTAT : 36231574 36231573 : GGTCATGGCA ATCTTCATCC AGCAAGTGTG CTACTTGTCT TAAGAGGATG : 36231524 36231523 : GGAGATTTAC TAAGCACTTT TGAGGTTTTA ATGAGCATAC AATGAGTCCA : 36231474 36231473 : CAGTTAAAAT ATGCTAGGCT ATTTACAAAT GTAGAAACTG AAAAAAAAAA : 36231424 36231423 : TCATGATATG AATCAGAACA AAATGTTATT CAGACTGATA ACAAGCCATA : 36231374 36231373 : TTCAGTACCA ACATGGCAAG AAAAATAAAT TTTCCAGTAT GAAAATGGGA : 36231324 36231323 : CACTGCTTGC CTCTAAGGAA TTTCTGAATT GTACCTATTG TGTACCAGTT : 36231274 36231273 : CAGAGTGTAT TTATTTATTA GTATTTATCA TGAGTTAAAC AAATGCAGGT : 36231224 36231223 : GTGAGTCAGC CAAAGCATGG CTGAAATACA TGGAAATCAC ATAGTCTAAA : 36231174 36231173 : AGAGGAGGGC ACACTTACAG GAATACATCT ATATAATTCC AGTTAGTTTT : 36231124 36231123 : CAGAAAGGAA TAATTCGTGT ACAGAAATAC AAGACTGGAG AAATTCCAAG : 36231074 36231073 : AGAACAAATA ATTCAAAGTT AAGTATATGG GTAAGCCTGC AATATTTCAT : 36231024 36231023 : ATTTAAAATA AAAAATTTTC CCAAGATTTT GTAAGAGAAC AACATAAAAG : 36230974 36230973 : TGCAGAGTGC ATCTATGTCA CTACAAAAGC CATATCTGCA TCTGACCTCT : 36230924 36230923 : TCTCAAATAA CTGTGCCTCT CCCTCCAGAT TCTCAACCTA ACAACTGATA : 36230874 628 : AT TCTCAACCTA ACAACTGATA : 649 210 : I L N L T T D : 216 36230873 : ATGCCAACAT CCTGCTTCAG ATCGACAATG CCAGGCTGGC AGCTGATGAC : 36230824 650 : ATGCCAACAT CCTGCTTCAG ATCGACAATG CCAGGCTGGC AGCTGATGAC : 699 217 : N A N I L L Q I D N A R L A A D D : 233 36230823 : TTCAGGCTGA AGTAAGTTAA GTGATCGTTG TATAATACTA TCACAACGAA : 36230774 700 : TTCAGGCTGA A : 710 234 : F R L K : 237 36230773 : TACATCAGTG GTTTTTAACA ATGACTTGGG ATGCCCTCAA TAACATTTAC : 36230724 36230723 : ATTTTTCTGA ATTCACCCAA AGTTAAATAG TATTGGAGTT ATCTGAGAAA : 36230674 36230673 : TTTTCCATGT CAGTGTTACC TTTTTGGCAA TATTAAAGGA AGAAAATGCA : 36230624 36230623 : TTTTAAAGTA ACTGCTAAGG TTTTTTCCAT TAAACCACTA TTACTTCTAA : 36230574 36230573 : GAGAACTGTA CATGACAAAT ATTGCCATTA CATGAGATCA ACTATGTAGC : 36230524 36230523 : TGCTTTTTAA ATAGTCTCTG CCCAGATACA TCTCCCCTAT ATAAGTTATA : 36230474 36230473 : ACCAGTATTG ATATCATGCT TGTTTCAGGT ATGAGAATGA GGTAGCTCTG : 36230424 711 : GT ATGAGAATGA GGTAGCTCTG : 732 238 : Y E N E V A L : 244 36230423 : CGCCAGAGCG TGGAGGCTGA CATCAACGGC CTGCGTAGGG TGCTGGATGA : 36230374 733 : CGCCAGAGCG TGGAGGCTGA CATCAACGGC CTGCGTAGGG TGCTGGATGA : 782 245 : R Q S V E A D I N G L R R V L D E : 261 36230373 : GCTGACCCTG ACCAAGGCTG ACCTGGAGAT GCAAATTGAG AGCCTGACTG : 36230324 783 : GCTGACCCTG ACCAAGGCTG ACCTGGAGAT GCAAATTGAG AGCCTGACTG : 832 262 : L T L T K A D L E M Q I E S L T : 277 36230323 : AAGAGCTGGC CTATCTGAAG AAGAACCACG AGGAGGTGAC ACAAAAGTTA : 36230274 833 : AAGAGCTGGC CTATCTGAAG AAGAACCACG AGGAG : 867 278 : E E L A Y L K K N H E E : 289 36230273 : TACTTTTCCC AGCCAAAAGA GAGTTCATTA TGGTCCTCGT GTAGCCAATA : 36230224 36230223 : AATCTTTCTG TTCCTCAAAC AGGAAATGAA AGACCTTCGA AATGTGTCCA : 36230174 868 : GAAATGAA AGACCTTCGA AATGTGTCCA : 895 290 : E M K D L R N V S : 298 36230173 : CTGGTGATGT GAATGTGGAA ATGAATGCTG CCCCGGGTGT TGATCTGACT : 36230124 896 : CTGGTGATGT GAATGTGGAA ATGAATGCTG CCCCGGGTGT TGATCTGACT : 945 299 : T G D V N V E M N A A P G V D L T : 315 36230123 : CAACTTCTGA ATAACATGAG AAGCCAATAT GAACAACTTG CTGAACAAAA : 36230074 946 : CAACTTCTGA ATAACATGAG AAGCCAATAT GAACAACTTG CTGAACAAAA : 995 316 : Q L L N N M R S Q Y E Q L A E Q N : 332 36230073 : CCGCAAAGAT GCTGAAGCCT GGTTCAATGA AAAGGTAAAG TAATCTTCCT : 36230024 996 : CCGCAAAGAT GCTGAAGCCT GGTTCAATGA AAAG : 1029 333 : R K D A E A W F N E K : 343 36230023 : TATAGTGAAA CTCATGGAGG TTTTATCATT TCAGAATTTC CTCACCCTTT : 36229974 36229973 : TCCTTGTTTT TAATACTCTA GAGCAAGGAA CTGACTACAG AAATTGATAA : 36229924 1030 : AGCAAGGAA CTGACTACAG AAATTGATAA : 1058 344 : S K E L T T E I D N : 353 36229923 : TAACATTGAA CAGATATCCA GCTATAAATC TGAGATTACT GAATTGAGAC : 36229874 1059 : TAACATTGAA CAGATATCCA GCTATAAATC TGAGATTACT GAATTGAGAC : 1108 354 : N I E Q I S S Y K S E I T E L R : 369 36229873 : GTAATGTACA AGCTCTGGAG ATAGAACTAC AGTCCCAACT GGCCTTGGTA : 36229824 1109 : GTAATGTACA AGCTCTGGAG ATAGAACTAC AGTCCCAACT GGCCTTG : 1155 370 : R N V Q A L E I E L Q S Q L A L : 385 36229823 : TGTTAACTCT CATGAAATGA CTTCAACTTT ATCATACAAA GTTTCATGCT : 36229774 36229773 : CACCTAAGAA TATGCAATGC AACAAAAAAA TGCAGAGTTG GAGGTAAGAA : 36229724 36229723 : AGAGAAAACA AAGTGAAGCT CATGTTAATG GAGGAAAAGT ACTACTAGTG : 36229674 36229673 : TTGATCTAAA AGTGCTGAAA CTGAAATGGT GCCATTAAAC ATACAACAAA : 36229624 36229623 : TTCTGTTCAT TTTCTTATTC TTCTATATAA TGCCTTACTA AATAATCAAA : 36229574 36229573 : TAAGCGTCAC CATACTCAAC TGAACAAGGA AGTCACTAAG CCACAAAAAA : 36229524 36229523 : ATCCGTTTCA GAAACAATCC CTGGAAGCCT CCTTGGCAGA AACAGAAGGT : 36229474 1156 : AAACAATCC CTGGAAGCCT CCTTGGCAGA AACAGAAGGT : 1194 386 : K Q S L E A S L A E T E G : 398 36229473 : CGCTACTGTG TGCAGCTCTC ACAGATTCAG GCCCAGATAT CCGCTCTGGA : 36229424 1195 : CGCTACTGTG TGCAGCTCTC ACAGATTCAG GCCCAGATAT CCGCTCTGGA : 1244 399 : R Y C V Q L S Q I Q A Q I S A L E : 415 VARIANTS : d d dd : VARIANTS 36229423 : AGAACAGTTG CAACAGATTC GAGCTGAAAC CGAGTGCCAG AATACTGAAT : 36229374 1245 : AGAACAGTTG CAACAGATTC GAGCTGAAAC CGAGTGCCAG AATACTGAAT : 1294 416 : E Q L Q Q I R A E T E C Q N T E : 431 VARIANTS : E X : VARIANTS VARIANTS : T G A C C : VARIANTS 36229373 : ACCAACAACT CCTGGATATT AAGATCCGAC TGGAGAATGA AATTCAAACC : 36229324 1295 : ACCAACAACT CCTGGATATT AAGATCCGAC TGGAGAATGA AATTCAAACC : 1344 432 : Y Q Q L L D I K I R L E N E I Q T : 448 VARIANTS : X E Q T P : VARIANTS VARIANTS : C C : VARIANTS 36229323 : TACCGCAGCC TGCTAGAAGG AGAGGGAAGG TAAATTTTAA AATGAAAAGT : 36229274 1345 : TACCGCAGCC TGCTAGAAGG AGAGGGAAG : 1373 449 : Y R S L L E G E G S : 458 VARIANTS : P P : VARIANTS 36229273 : TATCCCAGTT TCTTTTATTC AATATTCCAG ATAGCAAGGC TTATCTAAAC : 36229224 36229223 : CCCAAGAAGA TGCCAGAGAA TGAGAGGAAG GGAGGAGAGA GGGTAGAGTA : 36229174 36229173 : CAGAAAAAGG AGTACGCAAC CGCAATCTCA CTTTCTCATG AATTTGGCCC : 36229124 36229123 : AAAATGATTC TTAAGAGTTC TGTGAACTTA ACATTGTTTT CAAAGGATGG : 36229074 36229073 : GTTTTAAAAT ATATACCTGG CAGGGTTTTA TTTTTTCAAC ACGTTTTGCT : 36229024 36229023 : TATTTTCTAA ATTAACGGCA ACTGGAAAGC TACCCACCGT TTTCCAACGT : 36228974 36228973 : TAGAGATAAC CGAATGTGAC CTCACCCCGT TTAGTTCCGG AGGCGGCGGA : 36228924 1374 : TTCCGG AGGCGGCGGA : 1389 459 : S G G G G : 463 36228923 : CGCGGCGGCG GAAGTTTCGG CGGCGGCTAC GGCGGCGGAA GCTCCGGCGG : 36228874 1390 : CGCGGCGGCG GAAGTTTCGG CGGCGGCTAC GGCGGCGGAA GCTCCGGCGG : 1439 464 : R G G G S F G G G Y G G G S S G G : 480 36228873 : CGGAAGCTCC GGCGGCGGCC ACGGCGGCGG CCACGGCGGC AGTTCCGGCG : 36228824 1440 : CGGAAGCTCC GGCGGCGGCT ACGGCGGCGG CCACGGCGGC AGTTCCGGCG : 1489 481 : G S S G G G Y G G G H G G S S G : 496 36228823 : GCGGCTACGG AGGCGGAAGC TCCGGCGGCG GAAGCTCCGG CGGCGGCTAC : 36228774 1490 : GCGGCTACGG AGGCGGAAGC TCCGGCGGCG GAAGCTCCGG CGGCGGCTAC : 1539 497 : G G Y G G G S S G G G S S G G G Y : 513 36228773 : GGGGGCGGAA GCTCCAGCGG CGGCCACGGC GGCAGTTCCA GCGGCGGCTA : 36228724 1540 : GGGGGCGGAA GCTCCAGCGG CGGCCACGGC GGCAGTTCCA GCGGCGGCTA : 1589 514 : G G G S S S G G H G G S S S G G Y : 530 36228723 : CGGTGGTGGC AGTTCCGGCG GCGGCGGCGG CGGCTACGGG GGCGGCAGCT : 36228674 1590 : CGGTGGTGGC AGTTCCGGCG GCGGCGGCGG CGGCTACGGG GGCGGCAGCT : 1639 531 : G G G S S G G G G G G Y G G G S : 546 36228673 : CCGGCGGCGG CAGCAGCTCC GGCGGCGGAT ACGGCGGCGG CAGCTCCAGC : 36228624 1640 : CCGGCGGCGG CAGCAGCTCC GGCGGCGGAT ACGGCGGCGG CAGCTCCAGC : 1689 547 : S G G G S S S G G G Y G G G S S S : 563 36228623 : GGAGGCCACA AGTCCTCCTC TTCCGGGTCC GTGGGCGAGT CTTCATCTAA : 36228574 1690 : GGAGGCCACA AGTCCTCCTC TTCCGGGTCC GTGGGCGAGT CTTCATCTAA : 1739 564 : G G H K S S S S G S V G E S S S K : 580 36228573 : GGGACCAAGG TCAGCAGAAA CTAGCTGGGG TAATCAGAAT TAGTTTTAAC : 36228524 1740 : GGGACCAAG : 1748 581 : G P R : 583 36228523 : TTCCTGTGAT GGTTTTTTTG CGCTTTAAGC TCTAGAGTTG TTTTAAAAAA : 36228474 36228473 : TTAAAAATCT TAGAGACGGT TCCGTTTGCA TTTGTTCACA AACTACTCTT : 36228424 36228423 : AACACCAGCC GTGAAAAATG GCATGATCAA AATGTCATAC CTTAAGCATT : 36228374 36228373 : TTTTTGGGCT TAACAATGTA AAGTTGAAAT TTCCTTCTTT TTACAATATT : 36228324 36228323 : TGCTTGTTAA TTACTAAGGA TCCCTACAGA CTGTTTAAAA TTTTTTTTCC : 36228274 36228273 : ATCATTCACA CAGATACTAA CAAAACCAGA GTAATCAAGA CAATTATTGA : 36228224 1749 : ATACTAA CAAAACCAGA GTAATCAAGA CAATTATTGA : *30 584 : Y : 584 36228223 : AGAGGTGGCG CCCGACGGTA GAGTTCTTTC ATCTATGGTT GAATCAGAAA : 36228174 *31 : AGAGGTGGCG CCCGACGGTA GAGTTCTTTC ATCTATGGTT GAATCAGAAA : *80 36228173 : CCAAGAAACA CTACTATTAA ACTGCATCAA GAGGAAAGAG TCTCCCTTCA : 36228124 *81 : CCAAGAAACA CTACTATTAA ACTGCATCAA GAGGAAAGAG TCTCCCTTCA : *130 36228123 : CACAGACCAT TATTTACAGA TGCATGGAAA ACAAAGTCTC CAAGAAAACA : 36228074 *131 : CACAGACCAT TATTTACAGA TGCATGGAAA ACAAAGTCTC CAAGAAAACA : *180 36228073 : CTTCTGTCTT GATGGTCTAT GGAAATAGAC CTTGAAAATA AGGTGTCTAC : 36228024 *181 : CTTCTGTCTT GATGGTCTAT GGAAATAGAC CTTGAAAATA AGGTGTCTAC : *230 36228023 : AAGGTGTTTT GTGGTTTCTG TATTTCTTCT TTTCACTTTA CCAGAAAGTG : 36227974 *231 : AAGGTGTTTT GTGGTTTCTG TATTTCTTCT TTTCACTTTA CCAGAAAGTG : *280 36227973 : TTCTTTAATG GAAAGAAAAA CAACTTTCTG TTCTCATTTA CTAATGAATT : 36227924 *281 : TTCTTTAATG GAAAGAAAAA CAACTTTCTG TTCTCATTTA CTAATGAATT : *330 36227923 : TCAATAAACT TTCTTACTGA TGCAAACTA- ---------- ---------- : 36227895 *331 : TCAATAAACT TTCTTACTGA TGCAAACTAA AAAAAAAAAA AAAAAAAAAA : *380 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:01:07 RefSeq ID NM_000421.2 GI 40354191 Length 2145 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -10 CAGCATCACC ATGTCTGTTC GATACAGCTC AAGCAAGCAC TACTCTTCCT 40 41 CCCGCAGTGG AGGAGGAGGA GGAGGAGGAG GATGTGGAGG AGGAGGAGGA 90 91 GTGTCATCCC TAAGAATTTC TAGCAGCAAA GGCTCCCTTG GTGGAGGATT 140 141 TAGCTCAGGG GGGTTCAGTG GTGGCTCTTT TAGCCGTGGG AGCTCTGGTG 190 191 GGGGCTGCTT TGGGGGCTCA TCAGGTGGCT ATGGAGGATT AGGAGGTTTT 240 241 GGTGGAGGTA GCTTTCGTGG AAGCTATGGA AGTAGCAGCT TTGGTGGGAG 290 291 TTATGGAGGC AGCTTTGGAG GGGGCAGTTT CGGAGGTGGC AGCTTTGGTG 340 341 GGGGCAGCTT TGGTGGAGGC GGCTTTGGTG GAGGCGGCTT TGGAGGAGGC 390 391 TTTGGTGGTG GATTTGGAGG AGATGGTGGC CTTCTCTCTG GAAATGAAAA 440 441 AGTAACCATG CAGAATCTGA ATGACCGCCT GGCTTCCTAC TTGGACAAAG 490 491 TTCGGGCTCT GGAAGAATCA AACTATGAGC TGGAAGGCAA AATCAAGGAG 540 541 TGGTATGAAA AGCATGGCAA CTCACATCAG GGGGAGCCTC GTGACTACAG 590 591 CAAATACTAC AAAACCATCG ATGACCTTAA AAATCAGATT CTCAACCTAA 640 641 CAACTGATAA TGCCAACATC CTGCTTCAGA TCGACAATGC CAGGCTGGCA 690 691 GCTGATGACT TCAGGCTGAA GTATGAGAAT GAGGTAGCTC TGCGCCAGAG 740 741 CGTGGAGGCT GACATCAACG GCCTGCGTAG GGTGCTGGAT GAGCTGACCC 790 791 TGACCAAGGC TGACCTGGAG ATGCAAATTG AGAGCCTGAC TGAAGAGCTG 840 841 GCCTATCTGA AGAAGAACCA CGAGGAGGAA ATGAAAGACC TTCGAAATGT 890 891 GTCCACTGGT GATGTGAATG TGGAAATGAA TGCTGCCCCG GGTGTTGATC 940 941 TGACTCAACT TCTGAATAAC ATGAGAAGCC AATATGAACA ACTTGCTGAA 990 991 CAAAACCGCA AAGATGCTGA AGCCTGGTTC AATGAAAAGA GCAAGGAACT 1040 1041 GACTACAGAA ATTGATAATA ACATTGAACA GATATCCAGC TATAAATCTG 1090 1091 AGATTACTGA ATTGAGACGT AATGTACAAG CTCTGGAGAT AGAACTACAG 1140 1141 TCCCAACTGG CCTTGAAACA ATCCCTGGAA GCCTCCTTGG CAGAAACAGA 1190 1191 AGGTCGCTAC TGTGTGCAGC TCTCACAGAT TCAGGCCCAG ATATCCGCTC 1240 1241 TGGAAGAACA GTTGCAACAG ATTCGAGCTG AAACCGAGTG CCAGAATACT 1290 1291 GAATACCAAC AACTCCTGGA TATTAAGATC CGACTGGAGA ATGAAATTCA 1340 1341 AACCTACCGC AGCCTGCTAG AAGGAGAGGG AAGTTCCGGA GGCGGCGGAC 1390 1391 GCGGCGGCGG AAGTTTCGGC GGCGGCTACG GCGGCGGAAG CTCCGGCGGC 1440 1441 GGAAGCTCCG GCGGCGGCTA CGGCGGCGGC CACGGCGGCA GTTCCGGCGG 1490 1491 CGGCTACGGA GGCGGAAGCT CCGGCGGCGG AAGCTCCGGC GGCGGCTACG 1540 1541 GGGGCGGAAG CTCCAGCGGC GGCCACGGCG GCAGTTCCAG CGGCGGCTAC 1590 1591 GGTGGTGGCA GTTCCGGCGG CGGCGGCGGC GGCTACGGGG GCGGCAGCTC 1640 1641 CGGCGGCGGC AGCAGCTCCG GCGGCGGATA CGGCGGCGGC AGCTCCAGCG 1690 1691 GAGGCCACAA GTCCTCCTCT TCCGGGTCCG TGGGCGAGTC TTCATCTAAG 1740 1741 GGACCAAGAT ACTAACAAAA CCAGAGTAAT CAAGACAATT ATTGAAGAGG *35 *36 TGGCGCCCGA CGGTAGAGTT CTTTCATCTA TGGTTGAATC AGAAACCAAG *85 *86 AAACACTACT ATTAAACTGC ATCAAGAGGA AAGAGTCTCC CTTCACACAG *135 *136 ACCATTATTT ACAGATGCAT GGAAAACAAA GTCTCCAAGA AAACACTTCT *185 *186 GTCTTGATGG TCTATGGAAA TAGACCTTGA AAATAAGGTG TCTACAAGGT *235 *236 GTTTTGTGGT TTCTGTATTT CTTCTTTTCA CTTTACCAGA AAGTGTTCTT *285 *286 TAATGGAAAG AAAAACAACT TTCTGTTCTC ATTTACTAAT GAATTTCAAT *335 *336 AAACTTTCTT ACTGATGCAA ACTAAAAAAA AAAAAAAAAA AAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:01:07 RefSeq ID NP_000412.2 GI 40354192 Isoelectric Point 4.8196 Molecular Weight 58826.9 Daltons Length 584 amino acids Download File | Text Sequence 1 MSVRYSSSKH YSSSRSGGGG GGGGCGGGGG VSSLRISSSK GSLGGGFSSG 50 51 GFSGGSFSRG SSGGGCFGGS SGGYGGLGGF GGGSFRGSYG SSSFGGSYGG 100 101 SFGGGSFGGG SFGGGSFGGG GFGGGGFGGG FGGGFGGDGG LLSGNEKVTM 150 151 QNLNDRLASY LDKVRALEES NYELEGKIKE WYEKHGNSHQ GEPRDYSKYY 200 201 KTIDDLKNQI LNLTTDNANI LLQIDNARLA ADDFRLKYEN EVALRQSVEA 250 251 DINGLRRVLD ELTLTKADLE MQIESLTEEL AYLKKNHEEE MKDLRNVSTG 300 301 DVNVEMNAAP GVDLTQLLNN MRSQYEQLAE QNRKDAEAWF NEKSKELTTE 350 351 IDNNIEQISS YKSEITELRR NVQALEIELQ SQLALKQSLE ASLAETEGRY 400 401 CVQLSQIQAQ ISALEEQLQQ IRAETECQNT EYQQLLDIKI RLENEIQTYR 450 451 SLLEGEGSSG GGGRGGGSFG GGYGGGSSGG GSSGGGYGGG HGGSSGGGYG 500 501 GGSSGGGSSG GGYGGGSSSG GHGGSSSGGY GGGSSGGGGG GYGGGSSGGG 550 551 SSSGGGYGGG SSSGGHKSSS SGSVGESSSK GPRY Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 146 1A 147 181 L1 182 195 1B 196 296 L12 297 312 2A 313 331 L2 332 339 2B 340 460 Tail 461 584 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 14:09:19 Clone Name Species Reported Specificity Epitope Reference 17βG3 mouse GFAP, K1, K10, vimentin - Gown and Vogel, 1984 AE1 mouse K10, K14, K15, K16, K19 within 1B domain Woodcock-Mitchell et al, 1982, Dhouailly et al, 1989, Böttger et al, 1995 AE2 mouse K1, K2, K10 - Dhouailly et al, 1989, Cooper and Sun, 1986 DE-K10 mouse K10 - Ivanyi et al, 1989 DE-SCK mouse Degraded K1, Degraded K10 - Ivanyi et al, 1989 K92 mouse K10 - Pulford et al, 1985 KA5 mouse K1, K10 - Hormia et al, 1987 KK8.60 mouse K10 - Huszar et al, 1986 LH1 or LHP1 mouse K10 - Lane et al, 1985 LH2 mouse K10 - Lane et al, 1985 LH3 mouse K10 - Lane et al, 1985 RKSE60 mouse K10 - Ramaekers et al, 1985, Ramaekers et al, 1983 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 20125. Information last updated on 2007-08-17 12:22:26 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 771977 XM_001235181.1 XP_001235182.1 Vertebrates Rattus norvegicus 450225 NM_001008804.1 NP_001008804.1 Rodents Mus musculus 16661 NM_010660.2 NP_034790.1 Rodents Pan troglodytes 468240 XM_523631.2 XP_523631.2 Primates Canis familiaris 491006 NM_001013425.1 NP_001013443.1 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 2009-10-13 14:31:35 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Bullous erythroderma ichthyosiformis congenita of Brocq, bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis BCIE/EHK #113800 Cyclic ichthyosis with epidermolytic hyperkeratosis CIEH #607602 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 2009-10-13 14:31:35 * 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 13520 c.1314_1315insC Insertion p.Lys439GlnfsX6 Frame shift - BCIE/EHK Terheyden et al, 2009 13657 c.1333G>A Substitution p.Glu445Lys Substitution - BCIE/EHK Betlloch et al, 2009 8399 c.449T>G Substitution p.Met150Arg Substitution 1A BCIE/EHK Syder et al, 1994 8402 c.449T>C Substitution p.Met150Thr Substitution 1A BCIE/EHK Paller et al, 1994 11835 c.449T>C Substitution p.Met150Thr Substitution 1A BCIE/EHK Akiyama et al, 2003 11836 c.449T>C Substitution p.Met150Thr Substitution 1A BCIE/EHK Akiyama et al, 2003 9512 c.457C>G Substitution p.Leu153Val Substitution 1A BCIE/EHK Ishiko et al, 2001 12436 c.457C>G Substitution p.Leu153Val Substitution 1A BCIE/EHK Ishii et al, 2008 8390 c.460A>C Substitution p.Asn154His Substitution 1A BCIE/EHK Chipev et al, 1994 9335 c.465_466delCCinsAA Indel p.Asp155_Arg156delinsGluSer Indel 1A BCIE/EHK McLean et al, 1999 8386 c.466C>A Substitution p.Arg156Ser Substitution 1A BCIE/EHK McLean et al, 1994 8389 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Chipev et al, 1994 8395 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Rothnagel et al, 1993 8397 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Syder et al, 1994 11299 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Syder et al, 1994 8401 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Paller et al, 1994 8408 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Yang et al, 1999 8411 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK McLean et al, 1999 8416 c.466C>A Substitution p.Arg156Ser Substitution 1A BCIE/EHK Virtanen et al, 2001 8417 c.466C>G Substitution p.Arg156Gly Substitution 1A BCIE/EHK Virtanen et al, 2001 8420 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Saeki et al, 2002 8421 c.466C>A Substitution p.Arg156Ser Substitution 1A BCIE/EHK Sun et al, 2002 12038 c.466C>T Substitution p.Arg156Cys Substitution 1A EPPK Haruna et al, 2007 12427 c.466C>T Substitution p.Arg156Cys Substitution 1A BCIE/EHK Kucharekova et al, 2007 8381 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Rothnagel et al, 1992 8383 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Cheng et al, 1992 8384 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Cheng et al, 1992 8385 c.467G>C Substitution p.Arg156Pro Substitution 1A BCIE/EHK McLean et al, 1994 8387 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Chipev et al, 1994 11296 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Chipev et al, 1994 8393 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Rothnagel et al, 1993 8394 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Rothnagel et al, 1993 8396 c.467G>T Substitution p.Arg156Leu Substitution 1A BCIE/EHK Rothnagel et al, 1993 8403 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Moss et al, 1995 8404 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Nomura et al, 1997 8406 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Rothnagel et al, 1998 8409 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Yang et al, 1999 8412 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK McLean et al, 1999 8414 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Mayuzumi et al, 2000 8418 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Virtanen et al, 2001 11406 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Virtanen et al, 2001 11407 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Virtanen et al, 2001 8422 c.467G>C Substitution p.Arg156Pro Substitution 1A BCIE/EHK Sun et al, 2002 11424 c.467G>C Substitution p.Arg156Pro Substitution 1A BCIE/EHK Sun et al, 2002 8424 c.467G>A Substitution p.Arg156His Substitution 1A BCIE/EHK Sun et al, 2002 9469 c.472G>C Substitution p.Ala158Pro Substitution 1A BCIE/EHK Yang et al, 1997 8391 c.478T>G Substitution p.Tyr160Asp Substitution 1A BCIE/EHK Chipev et al, 1994 8410 c.479A>C Substitution p.Tyr160Ser Substitution 1A BCIE/EHK Arin et al, 1999 8961 c.481_486delTTGGAC Deletion p.Leu161_Asp162del Deletion 1A BCIE/EHK Virtanen et al, 2003 8382 c.482T>C Substitution p.Leu161Ser Substitution 1A BCIE/EHK Rothnagel et al, 1992 9334 c.1264_1265delCGinsGA Indel p.Arg422Glu Substitution 2B CIEH Joh et al, 1997 12447 c.1281_1282delCCinsAA Indel p.Cys427X Substitution 2B BCIE/EHK Tsubota et al, 2008 9095 c.1300C>T Substitution p.Gln434X Substitution 2B BCIE/EHK Müller et al, 2006 9444 c.1315A>G Substitution p.Lys439Glu Substitution 2B BCIE/EHK Syder et al, 1994 8392 c.1325T>A Substitution p.Leu442Gln Substitution 2B BCIE/EHK Chipev et al, 1994 8407 c.1337T>C Substitution p.Ile446Thr Substitution 2B CIEH Suga et al, 1998 12593 c.1340A>C Substitution p.Gln447Pro Substitution 2B BCIE/EHK Sheth et al, 2007 8413 c.1355T>C Substitution p.Leu452Pro Substitution 2B BCIE/EHK McLean et al, 1999 8419 c.1358T>C Substitution p.Leu453Pro Substitution 2B BCIE/EHK Virtanen et al, 2001 8960 c.1358T>C Substitution p.Leu453Pro Substitution 2B BCIE/EHK Virtanen et al, 2003 Back to top