Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:06:13 * 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. Chromosome 12q12-q13 Chromosome Strand - Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 51173448 : ATATTTCATA CCTTTCTAGA AACTGGGTGT GATCTCACTG TTGGTAAAGC : 51173399 -209 : ATATTTCATA CCTTTCTAGA AACTGGGTGT GATCTCACTG TTGGTAAAGC : -160 51173398 : CCAGCCCTTC CCAACCTGCA AGCTCACCTT CCAGGACTGG GCCCAGCCCA : 51173349 -159 : CCAGCCCTTC CCAACCTGCA AGCTCACCTT CCAGGACTGG GCCCAGCCCA : -110 51173348 : TGCTCTCCAT ATATAAGCTG CTGCCCCGAG CCTGATTCCT AGTCCTGCTT : 51173299 -109 : TGCTCTCCAT ATATAAGCTG CTGCCCCGAG CCTGATTCCT AGTCCTGCTT : -60 51173298 : CTCTTCCCTC TCTCCTCCAG CCTCTCACAC TCTCCTCAGC TCTCTCATCT : 51173249 -59 : CTCTTCCCTC TCTCCTCCAG CCTCTCACAC TCTCCTCAGC TCTCTCATCT : -10 51173248 : CCTGGAACCA TGGCCAGCAC ATCCACCACC ATCAGGAGCC ACAGCAGCAG : 51173199 -9 : CCTGGAACCA TGGCCAGCAC ATCCACCACC ATCAGGAGCC ACAGCAGCAG : 41 1 : M A S T S T T I R S H S S S : 14 51173198 : CCGCCGGGGT TTCAGTGCCA ACTCAGCCAG GCTCCCTGGG GTCAGCCGCT : 51173149 42 : CCGCCGGGGT TTCAGTGCCA ACTCAGCCAG GCTCCCTGGG GTCAGCCGCT : 91 15 : R R G F S A N S A R L P G V S R : 30 51173148 : CTGGCTTCAG CAGCGTCTCC GTGTCCCGCT CCAGGGGCAG TGGTGGCCTG : 51173099 92 : CTGGCTTCAG CAGCGTCTCC GTGTCCCGCT CCAGGGGCAG TGGTGGCCTG : 141 31 : S G F S S V S V S R S R G S G G L : 47 51173098 : GGTGGTGCAT GTGGAGGAGC TGGCTTTGGC AGCCGCAGTC TGTATGGCCT : 51173049 142 : GGTGGTGCAT GTGGAGGAGC TGGCTTTGGC AGCCGCAGTC TGTATGGCCT : 191 48 : G G A C G G A G F G S R S L Y G L : 64 51173048 : GGGGGGCTCC AAGAGGATCT CCATTGGAGG GGGCAGCTGT GCCATCAGTG : 51172999 192 : GGGGGGCTCC AAGAGGATCT CCATTGGAGG GGGCAGCTGT GCCATCAGTG : 241 65 : G G S K R I S I G G G S C A I S : 80 51172998 : GCGGCTATGG CAGCAGAGCC GGAGGCAGCT ATGGCTTTGG TGGCGCCGGG : 51172949 242 : GCGGCTATGG CAGCAGAGCC GGAGGCAGCT ATGGCTTTGG TGGCGCCGGG : 291 81 : G G Y G S R A G G S Y G F G G A G : 97 51172948 : AGTGGATTTG GTTTCGGTGG TGGAGCCGGC ATTGGCTTTG GTCTGGGTGG : 51172899 292 : AGTGGATTTG GTTTCGGTGG TGGAGCCGGC ATTGGCTTTG GTCTGGGTGG : 341 98 : S G F G F G G G A G I G F G L G G : 114 51172898 : TGGAGCCGGC CTTGCTGGTG GCTTTGGGGG CCCTGGCTTC CCTGTGTGCC : 51172849 342 : TGGAGCCGGC CTTGCTGGTG GCTTTGGGGG CCCTGGCTTC CCTGTGTGCC : 391 115 : G A G L A G G F G G P G F P V C : 130 51172848 : CCCCTGGAGG CATCCAAGAG GTCACCGTCA ACCAGAGTCT CCTGACTCCC : 51172799 392 : CCCCTGGAGG CATCCAAGAG GTCACCGTCA ACCAGAGTCT CCTGACTCCC : 441 131 : P P G G I Q E V T V N Q S L L T P : 147 VARIANTS : C : VARIANTS 51172798 : CTCAACCTGC AAATCGATCC CACCATCCAG CGGGTGCGGG CTGAGGAGCG : 51172749 442 : CTCAACCTGC AAATCGATCC CACCATCCAG CGGGTGCGGG CTGAGGAGCG : 491 148 : L N L Q I D P T I Q R V R A E E R : 164 VARIANTS : P : VARIANTS VARIANTS : T C : VARIANTS VARIANTS : C A T G GAddd GG C A : VARIANTS 51172748 : TGAACAGATC AAGACCCTCA ACAACAAGTT TGCCTCCTTC ATCGACAAGG : 51172699 492 : TGAACAGATC AAGACCCTCA ACAACAAGTT TGCCTCCTTC ATCGACAAG : 540 165 : E Q I K T L N N K F A S F I D K : 180 VARIANTS : P N F D d V P N : VARIANTS VARIANTS : Y C : VARIANTS VARIANTS : K S : VARIANTS VARIANTS : S : VARIANTS 51172698 : TGAGCCAGTG CCATGCCCTC CATGGGGCAC TTCAGGGTCC CCAGACCAGA : 51172649 51172648 : GGAGCAACAC CTTCCTGCCA GGGAGACCTA GGAGGGAGGG AGAAGAGGAC : 51172599 51172598 : TCAGCCCAGC TCTGCAGAGA GTGCAGATGG CTGCTGGTGC CCAGCAAGCA : 51172549 51172548 : GCAGGGATGG GCATCACTCC CCCATGGGAT CTCTGGAGTG GCCCTCACTC : 51172499 51172498 : CTGCCTAGGG AGAACCATAA CTTTTCATAA CCCTGAAGCA CAGATGAGGC : 51172449 51172448 : CATCAGAGAA TGGAGTAGGT TAACTCTTCC CTTTGAAGCG TCAAAGAAAA : 51172399 51172398 : TGCCAGGAGT ACACGGGCTG GTAAATTACA CTCTGGGGTC TGGATAAGAG : 51172349 51172348 : GAAAAAATAT TGGAAACAAA AGAAAGGATA TTTTGGCTAG ATTAAGAAAA : 51172299 51172298 : AAAAGACTTA AAACGTTTAT ACGTTATGTG GAAATGTTAA TTAATCCTCA : 51172249 51172248 : AAACAAAGAA TGACCATAAC ATCAGGATGT TTTAGAGGAG AGACTTGCAC : 51172199 51172198 : AAATGGGAAA TAAGACGGGA ATCAAATCAT TGGGCAACAT TTAACATCTC : 51172149 51172148 : TTCTAACTGA GGTCCTATCA GTAATAAAAA CTGTGTAAAA TTTATCAGAT : 51172099 51172098 : GAATACTATT TTATAACTAT GTTTGTAATT TTGGCTGGGA AAAGAAGGAA : 51172049 51172048 : AAGACATGTT GAAACTCATT AATATGTCCA ATAACTTAGA GAGTGAGAAC : 51171999 51171998 : ACCTGAATGG TCCGTGGGAC AATTCCTCTA GTGAGATTGG TGGGGTACAA : 51171949 51171948 : AGGAGAAGGG GTTGGGGGAG CAGAGCTCAG CCTGAGCCTC TCTACATGCA : 51171899 51171898 : CTGTAGTAGC CCAGCACCAT GGGAACCTCC CGGACCTGCC AGGAAACCGG : 51171849 51171848 : ATACCAGACA CTTTTTCTTC CTTCCCTTGC CTGGAAAATG ATCATCTTGT : 51171799 51171798 : CTCTCTTTCA GGTGCGGTTC CTGGAGCAGC AGAACAAGGT TCTGGAAACA : 51171749 541 : GTGCGGTTC CTGGAGCAGC AGAACAAGGT TCTGGAAACA : 579 181 : V R F L E Q Q N K V L E T : 193 51171748 : AAGTGGACCC TGCTGCAGGA GCAGGGCACC AAGACTGTGA GGCAGAACCT : 51171699 580 : AAGTGGACCC TGCTGCAGGA GCAGGGCACC AAGACTGTGA GGCAGAACCT : 629 194 : K W T L L Q E Q G T K T V R Q N L : 210 51171698 : GGAGCCGTTG TTCGAGCAGT ACATCAACAA CCTCAGGAGG CAGCTGGACA : 51171649 630 : GGAGCCGTTG TTCGAGCAGT ACATCAACAA CCTCAGGAGG CAGCTGGACA : 679 211 : E P L F E Q Y I N N L R R Q L D : 226 51171648 : GCATTGTCGG GGAACGGGGC CGCCTGGACT CAGAGCTCAG AGGCATGCAG : 51171599 680 : GCATTGTCGG GGAACGGGGC CGCCTGGACT CAGAGCTCAG AGGCATGCAG : 729 227 : S I V G E R G R L D S E L R G M Q : 243 51171598 : GACCTGGTGG AGGACTTCAA GAACAAGTGA GTTAAACAGG AGAAATGGAC : 51171549 730 : GACCTGGTGG AGGACTTCAA GAACAA : 755 244 : D L V E D F K N K : 252 51171548 : TCAGTTTCCT GCAGCACACA CTTCAAGACT ATTGGGTGAC CAGGGCCAGA : 51171499 51171498 : AGGGGGTAAT ATTCCTAACA ACCCATGTCC GTGGAAATGA AGAGCACAAA : 51171449 51171448 : TTAGTCCCTA GGAGCAAACC TGCAAGAACC ACAGATGGTT ATGGGAGGAT : 51171399 51171398 : GGGGAGATTA AAGAAGTGGC AAATTTAGCA GAAGCAAAAA TCGTCTCTTA : 51171349 51171348 : GGCTCTCTGT GGCAGGAAAG CCCAATTAGA ATATATTCCA TTCGGGAAAA : 51171299 51171298 : TGTTGAATCC CAGGCTGCTT TTCTGTTTCA TCCTACCCAC TGGCTCAAAT : 51171249 51171248 : GTGTCCCATG CCTTTCTTCC TGTAGATATG AGGATGAAAT CAACAAGCGC : 51171199 756 : ATATG AGGATGAAAT CAACAAGCGC : 780 253 : Y E D E I N K R : 260 51171198 : ACAGCAGCAG AGAATGAATT TGTGACTCTG AAGAAGGTGA GCAGATGAAG : 51171149 781 : ACAGCAGCAG AGAATGAATT TGTGACTCTG AAGAAG : 816 261 : T A A E N E F V T L K K : 272 51171148 : CCGGGGGTTC AAATTCATTT AGAAGGAGAG AAGTGGCTTT GTGTCCTCGC : 51171099 51171098 : TCCCCTGGGA GAGGAGAATT GGCATGGAGA CTAGAAGATG GGTAGATTGG : 51171049 51171048 : AAAGGTGAGC TCAGGTAACT CCAGGTTGTT GGCTCTTTCC CCAGGATGTG : 51170999 817 : GATGTG : 822 273 : D V : 274 51170998 : GATGCTGCCT ACATGAACAA GGTTGAACTG CAAGCCAAGG CAGACACTCT : 51170949 823 : GATGCTGCCT ACATGAACAA GGTTGAACTG CAAGCCAAGG CAGACACTCT : 872 275 : D A A Y M N K V E L Q A K A D T L : 291 51170948 : CACAGACGAG ATCAACTTCC TGAGAGCCTT GTATGATGCA GTAAGCATCT : 51170899 873 : CACAGACGAG ATCAACTTCC TGAGAGCCTT GTATGATGCA : 912 292 : T D E I N F L R A L Y D A : 304 51170898 : CCACCATCCT TCTGTTTACT CTGATGGGGT CTGCAAAGGG GAGAAGATGT : 51170849 51170848 : ATAGGGTTGG GTATCTCTGT AAATATCGGA AGTGAAGTTG ATCTTATGAC : 51170799 51170798 : CTTCTGTTCT GCAGGAGCTG TCCCAGATGC AGACCCACAT CTCAGACACA : 51170749 913 : GAGCTG TCCCAGATGC AGACCCACAT CTCAGACACA : 948 305 : E L S Q M Q T H I S D T : 316 51170748 : TCTGTGGTGC TGTCCATGGA CAACAACCGC AACCTGGACC TGGACAGCAT : 51170699 949 : TCTGTGGTGC TGTCCATGGA CAACAACCGC AACCTGGACC TGGACAGCAT : 998 317 : S V V L S M D N N R N L D L D S I : 333 51170698 : CATCGCTGAG GTCAAGGCCC AATATGAGGA GATTGCTCAG AGAAGCCGGG : 51170649 999 : CATCGCTGAG GTCAAGGCCC AATATGAGGA GATTGCTCAG AGAAGCCGGG : 1048 334 : I A E V K A Q Y E E I A Q R S R : 349 51170648 : CTGAGGCTGA GTCCTGGTAC CAGACCAAGG TGAGCAGGGA GTGGGCAGCC : 51170599 1049 : CTGAGGCTGA GTCCTGGTAC CAGACCAAG : 1077 350 : A E A E S W Y Q T K : 359 51170598 : GCTGAGGAAT CCCTGTGCCA TCCCTGAATA CCAGAGGACT GCAGACTTTA : 51170549 51170548 : CTGGGGACAT CCCCTGACAG GAAGCTGGGG TCCTCTCACA GGACATGCAC : 51170499 51170498 : TCTGCACTAT TAGAGTAGAC ATTTGCAGAA CTTATGCCCA AGTCAAGAAG : 51170449 51170448 : GAAAAAGAAC CCAATGCAGG AGGAAAGCTA CCATAGACAA GGACATAGTC : 51170399 51170398 : ATCTCTGCAT TTAGCTTCAC CCTGATTGCT GGCTTTTAGA AATTGGTACA : 51170349 51170348 : GAACATTTCT ACTCCCTAAA GAAACTAGGC AGGCAGTGGT GCCATAATGA : 51170299 51170298 : GGATGGTCTG TGACTCCAGT GTTTAGTATC CACCAACCAC ATAATATCAA : 51170249 51170248 : CTTTTCCTCA AGTTTCTTGA GGAGAAGCCT TTAGGTCCAC TTCATGACAT : 51170199 51170198 : GCATGATACA CAAGTGAAAG TCATCGCTCC CAGGTAAGAA CCCGTAGACA : 51170149 51170148 : CTGTCTCTCT CTCCACCTCT GGGCTGCAGT ACGAGGAGCT GCAGGTCACA : 51170099 1078 : T ACGAGGAGCT GCAGGTCACA : 1098 360 : Y E E L Q V T : 366 51170098 : GCAGGCAGAC ATGGGGACGA CCTGCGCAAC ACCAAGCAGG AGATTGCTGA : 51170049 1099 : GCAGGCAGAC ATGGGGACGA CCTGCGCAAC ACCAAGCAGG AGATTGCTGA : 1148 367 : A G R H G D D L R N T K Q E I A E : 383 51170048 : GATCAACCGC ATGATCCAGA GGCTGAGATC TGAGATCGAC CACGTCAAGA : 51169999 1149 : GATCAACCGC ATGATCCAGA GGCTGAGATC TGAGATCGAC CACGTCAAGA : 1198 384 : I N R M I Q R L R S E I D H V K : 399 51169998 : AGCAGGTATG GTGAGGGACA ATGGAGGAGA GAAGCATTTC CTTGTCAGGT : 51169949 1199 : AGCAG : 1203 400 : K Q : 401 51169948 : CGTCAGGCAG CCATCAACCA TTATATTAGG GAAAATCCCC TGGAACTTAT : 51169899 51169898 : CAAAACCAGG GAGAGGAGGC TATCATTTCC TACCCTTAGT GGGTACCTGC : 51169849 51169848 : TGCTTAGGAG ACATAGATCC TACCTATGGC ATGACACAAA CACATGAGAG : 51169799 51169798 : AACCAGTCAC GATGCTCAGA GCTGCAAAAA CATGGTTTAG AGCAGGAGTG : 51169749 51169748 : TCCAGTATTT TGGCTTCCCT GGACCACAGT GGAACAAGAA GAACTATCTT : 51169699 51169698 : GGGCCACACA TAAAATACAC TAATACAAAC AATAGCTGAT AAGCTAAAAC : 51169649 51169648 : AAAACAAAAC AAAACATACA GCCTTGTCCA GTGGCTCATG CCTGTAATCC : 51169599 51169598 : CAGCACTTTG GGAGGCTGAG GCTAGTGGAT CATGAGGTCA GGAGTGAGAG : 51169549 51169548 : ACAAGCCTGA CCAACATGGT GAAACGCCGC CTCTATTAAA AATACATAAA : 51169499 51169498 : AATTAGCCGG GCATGGTGGA GCGTGCCTGT AGTCCCAGCT ACTCAGGAGA : 51169449 51169448 : CTGAAGCAGG AGAATCGCTT GAGCCTGGGA GGTGGAGGTT GCAGTGAGTC : 51169399 51169398 : GATACCGCGC CACTGCACTC CAGCCTGGGT GACAGAGCAA AACTCTGTCT : 51169349 51169348 : CAAAAAGAAA AAGAAAAAGA AAAAACCCTC ATAATGTATT CAGAAAGTTT : 51169299 51169298 : AAGAATTTGT GTTGGGCTGC ATTTAAAGCC ATCCTGGGCT GCATGTGGCC : 51169249 51169248 : TGTGGGCTGT AGGTTGGACA AGCTTGGTCT AGAGGAATTG GATTTATTTC : 51169199 51169198 : CATAGGAAGA CTGACTTGGA AACTGCAAAG GAACAAATTG AAAAAGAAAA : 51169149 51169148 : GGGCAGATAA GAAAGCACAA GGAACATTGT TTCAAATCTG CTCAAGACTC : 51169099 51169098 : AAGGTGAAAG AGAGAGTAGA GGAAGGGCAA AGGACAAAGA ACAGTAGATG : 51169049 51169048 : AGAGATTCTG AGGGGGAGGA AGGCAAGGTC TCAGCAGTCT CATGTGAAGA : 51168999 51168998 : CTCATCACCT CACTTCAGGA TGGTCTTAAT TTTGTGTATG TTAGTGTGGC : 51168949 51168948 : ATCTATATGA GGTAATCATA AGTGGTCTTG ATTTGACTGT GGAGACAACA : 51168899 51168898 : CTCCAAACAA ACCAGCAGGT ACATTTCTTC CAGTGTATGT GTCCACTGCA : 51168849 51168848 : GTGTCTCCCA TTAGTAAATA TCCACATTCT CCCACAGAGT GGTTCACAAA : 51168799 51168798 : AAGGGTTATG AGTTTTTGTC AAATGAACCA GACTGGACAA AAACTGCAAA : 51168749 51168748 : ATAAAAAAAA AAACAATAGA TAGGAAGAGT CAGAGCTCAT TCACCATCAA : 51168699 51168698 : TTCTGGGCTC CTGGCCCCTT CACTAGGAAA TAACCAGCCA GGTTTAGTCT : 51168649 51168648 : CCTCTGGAAG ACCGGATGAC AAGTTTCTTC TATTCCTTTC CTCTTCCAGT : 51168599 1204 : T : 1204 51168598 : GCGCCAACCT GCAGGCCGCC ATTGCTGATG CTGAGCAGCG TGGGGAGATG : 51168549 1205 : GCGCCAACCT GCAGGCCGCC ATTGCTGATG CTGAGCAGCG TGGGGAGATG : 1254 402 : C A N L Q A A I A D A E Q R G E M : 418 51168548 : GCCCTCAAGG ATGCCAAGAA CAAGCTGGAA GGGCTGGAGG ATGCCCTGCA : 51168499 1255 : GCCCTCAAGG ATGCCAAGAA CAAGCTGGAA GGGCTGGAGG ATGCCCTGCA : 1304 419 : A L K D A K N K L E G L E D A L Q : 435 51168498 : GAAGGCCAAG CAGGACCTGG CCCGGCTGCT GAAGGAGTAC CAGGAGCTGA : 51168449 1305 : GAAGGCCAAG CAGGACCTGG CCCGGCTGCT GAAGGAGTAC CAGGAGCTGA : 1354 436 : K A K Q D L A R L L K E Y Q E L : 451 VARIANTS : G A : VARIANTS VARIANTS : A C C C C : VARIANTS 51168448 : TGAATGTCAA GCTGGCCCTG GACGTGGAGA TCGCCACCTA CCGCAAGCTG : 51168399 1355 : TGAATGTCAA GCTGGCCCTG GACGTGGAGA TCGCCACCTA CCGCAAGCTG : 1404 452 : M N V K L A L D V E I A T Y R K L : 468 VARIANTS : N P P H P : VARIANTS VARIANTS : S Q : VARIANTS VARIANTS : C : VARIANTS VARIANTS : G ii A : VARIANTS 51168398 : CTGGAGGGTG AGGAGTGCAG GTGGGTAACT GACACGAACT CCTTCAACAG : 51168349 1405 : CTGGAGGGTG AGGAGTGCAG : 1424 469 : L E G E E C R : 475 VARIANTS : R iiii K : VARIANTS VARIANTS : P : VARIANTS 51168348 : CTGAGTCCAT CTTCAAGGTT CCTGGCACTG AGCACAACTT TAAGGTGCAC : 51168299 51168298 : TGCCCATGGC CATAATTGCT CTTCCTGAGA GAAAACTAAA AGAGCAGTTT : 51168249 51168248 : CCCATGGACT CTTCCACCCA CCGAGGCTGC CCACGCTGGT CCAGGGAAGG : 51168199 51168198 : AAGAGCTCTC TGAGGTCTCA CCCTCCCTGT GTTCCTCTCC ACAGGCTGAA : 51168149 1425 : GCTGAA : 1430 476 : L N : 477 51168148 : TGGCGAAGGC GTTGGACAAG TCAACATCTG TAAGTACCTT TGCTTGCCTT : 51168099 1431 : TGGCGAAGGC GTTGGACAAG TCAACATCT : 1459 478 : G E G V G Q V N I : 486 51168098 : CCTCCCCTGC CCTCGCACTC TTCTGACTGG GCTCAGGCTG ACAGGATGAG : 51168049 51168048 : CTCACCATGG CTTCTTGTGT CCTTGTCCCC TCCCCATCAC AGCTGTGGTG : 51167999 1460 : CTGTGGTG : 1467 487 : S V V : 489 51167998 : CAGTCCACCG TCTCCAGTGG CTATGGCGGT GCCAGTGGTG TCGGCAGTGG : 51167949 1468 : CAGTCCACCG TCTCCAGTGG CTATGGCGGT GCCAGTGGTG TCGGCAGTGG : 1517 490 : Q S T V S S G Y G G A S G V G S G : 506 51167948 : CTTAGGCCTG GGTGGAGGAA GCAGCTACTC CTATGGCAGT GGTCTTGGCG : 51167899 1518 : CTTAGGCCTG GGTGGAGGAA GCAGCTACTC CTATGGCAGT GGTCTTGGCG : 1567 507 : L G L G G G S S Y S Y G S G L G : 522 51167898 : TTGGAGGTGG CTTCAGTTCC AGCAGTGGCA GAGCCATTGG GGGTGGCCTC : 51167849 1568 : TTGGAGGTGG CTTCAGTTCC AGCAGTGGCA GAGCCATTGG GGGTGGCCTC : 1617 523 : V G G G F S S S S G R A I G G G L : 539 51167848 : AGCTCTGTTG GAGGCGGCAG TTCCACCATC AAGTACACCA CCACCTCCTC : 51167799 1618 : AGCTCTGTTG GAGGCGGCAG TTCCACCATC AAGTACACCA CCACCTCCTC : 1667 540 : S S V G G G S S T I K Y T T T S S : 556 51167798 : CTCCAGCAGG AAGAGCTATA AGCACTAAAG TGCGTCTGCT AGCTCTCGGT : 51167749 1668 : CTCCAGCAGG AAGAGCTATA AGCACTAAAG TGCGTCTGCT AGCTCTCGGT : *22 557 : S S R K S Y K H : 564 51167748 : CCCACAGTCC TCAGGCCCCT CTCTGGCTGC AGAGCCCTCT CCTCAGGTTG : 51167699 *23 : CCCACAGTCC TCAGGCCCCT CTCTGGCTGC AGAGCCCTCT CCTCAGGTTG : *72 51167698 : CCTTTCCTCT CCTGGCCTCC AGTCTCCCCT GCTGTCCCAG GTAGAGCTGG : 51167649 *73 : CCTTTCCTCT CCTGGCCTCC AGTCTCCCCT GCTGTCCCAG GTAGAGCTGG : *122 51167648 : GTATGGATGC TTAGTGCCCT CACTTCTTCT CTCTCTCTCT ATACCATCTG : 51167599 *123 : GTATGGATGC TTAGTGCCCT CACTTCTTCT CTCTCTCTCT ATACCATCTG : *172 51167598 : AGCACCCATT GCTCACCATC AGATCAACCT CTGATTTTAC ATCATGATGT : 51167549 *173 : AGCACCCATT GCTCACCATC AGATCAACCT CTGATTTTAC ATCATGATGT : *222 51167548 : AATCACCACT GGAGCTTCAC TGTTACTAAA TTATTAATTT CTTGCCTCCA : 51167499 *223 : AATCACCACT GGAGCTTCAC TGTTACTAAA TTATTAATTT CTTGCCTCCA : *272 51167498 : GTGTTCTATC TCTGAGGCTG AGCATTATAA GAAAATGACC TCTGCTCCTT : 51167449 *273 : GTGTTCTATC TCTGAGGCTG AGCATTATAA GAAAATGACC TCTGCTCCTT : *322 51167448 : TTCATTGCAG AAAATTGCCA GGGGCTTATT TCAGAACAAC TTCCACTTAC : 51167399 *323 : TTCATTGCAG AAAATTGCCA GGGGCTTATT TCAGAACAAC TTCCACTTAC : *372 51167398 : TTTCCACTGG CTCTCAAACT CTCTAACTTA TAAGTGTTGT GAACCCCCAC : 51167349 *373 : TTTCCACTGG CTCTCAAACT CTCTAACTTA TAAGTGTTGT GAACCCCCAC : *422 51167348 : CCAGGCAGTA TCCATGAAAG CACAAGTGAC TAGTCCTATG ATGTACAAAG : 51167299 *423 : CCAGGCAGTA TCCATGAAAG CACAAGTGAC TAGTCCTATG ATGTACAAAG : *472 51167298 : CCTGTATCTC TGTGATGATT TCTGTGCTCT TCGCTGTTTG CAATTGCTAA : 51167249 *473 : CCTGTATCTC TGTGATGATT TCTGTGCTCT TCGCTGTTTG CAATTGCTAA : *522 51167248 : ATAAAGCAGA TTTATAATAC AATA : 51167225 *523 : ATAAAGCAGA TTTATAATAC AATA : *546 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:06:13 RefSeq ID NM_005554.3 GI 126273584 Length 2450 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -209 ATATTTCATA CCTTTCTAGA AACTGGGTGT GATCTCACTG TTGGTAAAGC -160 -159 CCAGCCCTTC CCAACCTGCA AGCTCACCTT CCAGGACTGG GCCCAGCCCA -110 -109 TGCTCTCCAT ATATAAGCTG CTGCCCCGAG CCTGATTCCT AGTCCTGCTT -60 -59 CTCTTCCCTC TCTCCTCCAG CCTCTCACAC TCTCCTCAGC TCTCTCATCT -10 -9 CCTGGAACCA TGGCCAGCAC ATCCACCACC ATCAGGAGCC ACAGCAGCAG 41 42 CCGCCGGGGT TTCAGTGCCA ACTCAGCCAG GCTCCCTGGG GTCAGCCGCT 91 92 CTGGCTTCAG CAGCGTCTCC GTGTCCCGCT CCAGGGGCAG TGGTGGCCTG 141 142 GGTGGTGCAT GTGGAGGAGC TGGCTTTGGC AGCCGCAGTC TGTATGGCCT 191 192 GGGGGGCTCC AAGAGGATCT CCATTGGAGG GGGCAGCTGT GCCATCAGTG 241 242 GCGGCTATGG CAGCAGAGCC GGAGGCAGCT ATGGCTTTGG TGGCGCCGGG 291 292 AGTGGATTTG GTTTCGGTGG TGGAGCCGGC ATTGGCTTTG GTCTGGGTGG 341 342 TGGAGCCGGC CTTGCTGGTG GCTTTGGGGG CCCTGGCTTC CCTGTGTGCC 391 392 CCCCTGGAGG CATCCAAGAG GTCACCGTCA ACCAGAGTCT CCTGACTCCC 441 442 CTCAACCTGC AAATCGATCC CACCATCCAG CGGGTGCGGG CTGAGGAGCG 491 492 TGAACAGATC AAGACCCTCA ACAACAAGTT TGCCTCCTTC ATCGACAAGG 541 542 TGCGGTTCCT GGAGCAGCAG AACAAGGTTC TGGAAACAAA GTGGACCCTG 591 592 CTGCAGGAGC AGGGCACCAA GACTGTGAGG CAGAACCTGG AGCCGTTGTT 641 642 CGAGCAGTAC ATCAACAACC TCAGGAGGCA GCTGGACAGC ATTGTCGGGG 691 692 AACGGGGCCG CCTGGACTCA GAGCTCAGAG GCATGCAGGA CCTGGTGGAG 741 742 GACTTCAAGA ACAAATATGA GGATGAAATC AACAAGCGCA CAGCAGCAGA 791 792 GAATGAATTT GTGACTCTGA AGAAGGATGT GGATGCTGCC TACATGAACA 841 842 AGGTTGAACT GCAAGCCAAG GCAGACACTC TCACAGACGA GATCAACTTC 891 892 CTGAGAGCCT TGTATGATGC AGAGCTGTCC CAGATGCAGA CCCACATCTC 941 942 AGACACATCT GTGGTGCTGT CCATGGACAA CAACCGCAAC CTGGACCTGG 991 992 ACAGCATCAT CGCTGAGGTC AAGGCCCAAT ATGAGGAGAT TGCTCAGAGA 1041 1042 AGCCGGGCTG AGGCTGAGTC CTGGTACCAG ACCAAGTACG AGGAGCTGCA 1091 1092 GGTCACAGCA GGCAGACATG GGGACGACCT GCGCAACACC AAGCAGGAGA 1141 1142 TTGCTGAGAT CAACCGCATG ATCCAGAGGC TGAGATCTGA GATCGACCAC 1191 1192 GTCAAGAAGC AGTGCGCCAA CCTGCAGGCC GCCATTGCTG ATGCTGAGCA 1241 1242 GCGTGGGGAG ATGGCCCTCA AGGATGCCAA GAACAAGCTG GAAGGGCTGG 1291 1292 AGGATGCCCT GCAGAAGGCC AAGCAGGACC TGGCCCGGCT GCTGAAGGAG 1341 1342 TACCAGGAGC TGATGAATGT CAAGCTGGCC CTGGACGTGG AGATCGCCAC 1391 1392 CTACCGCAAG CTGCTGGAGG GTGAGGAGTG CAGGCTGAAT GGCGAAGGCG 1441 1442 TTGGACAAGT CAACATCTCT GTGGTGCAGT CCACCGTCTC CAGTGGCTAT 1491 1492 GGCGGTGCCA GTGGTGTCGG CAGTGGCTTA GGCCTGGGTG GAGGAAGCAG 1541 1542 CTACTCCTAT GGCAGTGGTC TTGGCGTTGG AGGTGGCTTC AGTTCCAGCA 1591 1592 GTGGCAGAGC CATTGGGGGT GGCCTCAGCT CTGTTGGAGG CGGCAGTTCC 1641 1642 ACCATCAAGT ACACCACCAC CTCCTCCTCC AGCAGGAAGA GCTATAAGCA 1691 1692 CTAAAGTGCG TCTGCTAGCT CTCGGTCCCA CAGTCCTCAG GCCCCTCTCT *46 *47 GGCTGCAGAG CCCTCTCCTC AGGTTGCCTT TCCTCTCCTG GCCTCCAGTC *96 *97 TCCCCTGCTG TCCCAGGTAG AGCTGGGTAT GGATGCTTAG TGCCCTCACT *146 *147 TCTTCTCTCT CTCTCTATAC CATCTGAGCA CCCATTGCTC ACCATCAGAT *196 *197 CAACCTCTGA TTTTACATCA TGATGTAATC ACCACTGGAG CTTCACTGTT *246 *247 ACTAAATTAT TAATTTCTTG CCTCCAGTGT TCTATCTCTG AGGCTGAGCA *296 *297 TTATAAGAAA ATGACCTCTG CTCCTTTTCA TTGCAGAAAA TTGCCAGGGG *346 *347 CTTATTTCAG AACAACTTCC ACTTACTTTC CACTGGCTCT CAAACTCTCT *396 *397 AACTTATAAG TGTTGTGAAC CCCCACCCAG GCAGTATCCA TGAAAGCACA *446 *447 AGTGACTAGT CCTATGATGT ACAAAGCCTG TATCTCTGTG ATGATTTCTG *496 *497 TGCTCTTCGC TGTTTGCAAT TGCTAAATAA AGCAGATTTA TAATACAATA *546 Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:06:13 RefSeq ID NP_005545.1 GI 5031839 Isoelectric Point 8.1636 Molecular Weight 60044.8 Daltons Length 564 amino acids Download File | Text Sequence 1 MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSVSVSR SRGSGGLGGA 50 51 CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100 101 GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150 151 QIDPTIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LETKWTLLQE 200 201 QGTKTVRQNL EPLFEQYINN LRRQLDSIVG ERGRLDSELR GMQDLVEDFK 250 251 NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300 301 LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350 351 EAESWYQTKY EELQVTAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400 401 QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450 451 LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500 501 SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRAIGGGLS SVGGGSSTIK 550 551 YTTTSSSSRK SYKH Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 163 1A 164 198 L1 199 210 1B 211 311 L12 312 328 2A 329 347 L2 348 355 2B 356 476 Tail 477 564 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 693-1 rabbit K6a, K6b, K6c - Reichelt et al, 1997 C-10 mouse K6a, K6b, K6c, K8 - Upasani et al, 2004, Kovarík et al, 1988, Macák and Unger, 1991 D5/16 B4 mouse K5, K6a, K6b, K6c - Turashvili et al, 2007, Clover et al, 1997 LHK6 mouse K6a, K6b, K6c - Machesney et al, 1998 LL020 mouse K6a, K6b, K6c - Broekaert 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 36182. Information last updated on 2007-08-17 12:27:33 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Mus musculus 16687 NM_008476.3 NP_032502.3 Rodents Mus musculus 16688 NM_010669.2 NP_034799.1 Rodents Canis familiaris 486523 XM_844915.1 XP_850008.1 Mammals Pan troglodytes 451918 XM_509078.2 XP_509078.2 Primates Gallus gallus 408041 NM_001001313.1 NP_001001313.1 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 2009-10-27 17:07:05 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Pachyonychia congenita type 1 PC-1 #167200 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 2009-10-27 17:07:05 * 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 13675 c.1393T>C Substitution p.Tyr465His Substitution - PC-1 Bai et al, 2009 13677 c.511A>G Substitution p.Asn171Asp Substitution - PC-1 Bai et al, 2009 13716 c.491G>C Substitution p.Arg164Pro Substitution - PC-1 Iorizzo et al, 2009 11991 c.491G>C Substitution p.Arg164Pro Substitution 1A PC-1 Liao et al, 2007 13390 c.497A>C Substitution p.Gln166Pro Substitution 1A PC-1 Lv et al, 2009 9128 c.500T>A Substitution p.Ile167Asn Substitution 1A PC-1 Smith et al, 2005 9129 c.508C>T Substitution p.Leu170Phe Substitution 1A PC-1 Smith et al, 2005 11993 c.511A>G Substitution p.Asn171Asp Substitution 1A PC-1 Liao et al, 2007 11995 c.511A>T Substitution p.Asn171Tyr Substitution 1A PC-1 Liao et al, 2007 11996 c.511A>T Substitution p.Asn171Tyr Substitution 1A PC-1 Liao et al, 2007 13412 c.511A>G Substitution p.Asn171Asp Substitution 1A PC-1 Bai et al, 2008 9130 c.512A>G Substitution p.Asn171Ser Substitution 1A PC-1 Smith et al, 2005 12003 c.512A>G Substitution p.Asn171Ser Substitution 1A PC-1 Liao et al, 2007 12004 c.512A>G Substitution p.Asn171Ser Substitution 1A PC-1 Liao et al, 2007 12005 c.512A>G Substitution p.Asn171Ser Substitution 1A PC-1 Liao et al, 2007 9628 c.513C>A Substitution p.Asn171Lys Substitution 1A PC-1 Smith et al, 1999 9626 c.513C>A Substitution p.Asn171Lys Substitution 1A PC-1 Lin et al, 1999 9136 c.513C>A Substitution p.Asn171Lys Substitution 1A PC-1 Smith et al, 2005 13399 c.513C>A Substitution p.Asn171Lys Substitution 1A PC-1 Lv et al, 2009 9373 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Bowden et al, 1995 9374 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Lin et al, 1999 9632 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Terrinoni et al, 2001 11417 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Terrinoni et al, 2001 11418 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Terrinoni et al, 2001 9636 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Ward et al, 2003 9135 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 11512 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 11513 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 11514 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 11515 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 11516 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Smith et al, 2005 12007 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Liao et al, 2007 12008 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Liao et al, 2007 12009 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Liao et al, 2007 13401 c.514_516delAAC Deletion p.Asn172del Deletion 1A PC-1 Lv et al, 2009 9629 c.520T>G Substitution p.Phe174Val Substitution 1A PC-1 Terrinoni et al, 2001 9627 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Smith et al, 1999 9635 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Terrinoni et al, 2001 9137 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Smith et al, 2005 11517 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Smith et al, 2005 11998 c.521T>G Substitution p.Phe174Cys Substitution 1A PC-1 Liao et al, 2007 13403 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Lv et al, 2009 13404 c.521T>C Substitution p.Phe174Ser Substitution 1A PC-1 Lv et al, 2009 9131 c.526T>C Substitution p.Ser176Pro Substitution 1A PC-1 Smith et al, 2005 13392 c.533T>A Substitution p.Ile178Asn Substitution 1A PC-1 Lv et al, 2009 9126 c.1385T>G Substitution p.Ile462Ser Substitution 2B PC-1 Kang et al, 2004 9132 c.1385T>A Substitution p.Ile462Asn Substitution 2B PC-1 Smith et al, 2005 13397 c.1387G>C Substitution p.Ala463Pro Substitution 2B PC-1 Lv et al, 2009 9127 c.1390A>C Substitution p.Thr464Pro Substitution 2B PC-1 García-Rio et al, 2005 13406 c.1393T>C Substitution p.Tyr465His Substitution 2B PC-1 Lv et al, 2009 13410 c.1393T>C Substitution p.Tyr465His Substitution 2B PC-1 Bai et al, 2008 9133 c.1403T>C Substitution p.Leu468Pro Substitution 2B PC-1 Smith et al, 2005 11841 c.1403T>A Substitution p.Leu468Gln Substitution 2B PC-1 Zhou et al, 2007 9630 c.1406T>G Substitution p.Leu469Arg Substitution 2B PC-1 Terrinoni et al, 2001 9134 c.1406T>C Substitution p.Leu469Pro Substitution 2B PC-1 Smith et al, 2005 12011 c.1406T>G Substitution p.Leu469Arg Substitution 2B PC-1 Liao et al, 2007 12015 c.1406T>C Substitution p.Leu469Pro Substitution 2B PC-1 Liao et al, 2007 9240 c.1410_1411ins117 Insertion p.Glu470_Gly471ins39 Insertion 2B PC-1 Smith et al, 2005 9631 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-1 Terrinoni et al, 2001 12019 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-1 Liao et al, 2007 12020 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-1 Liao et al, 2007 Back to top