Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:01:18 * 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 37034335 : CTCCTCTCCA GCCCTTCTCC TGTGTGCCTG CCTCCTGCCG CCGCCACCAT : 37034286 -48 : CTCCTCTCCA GCCCTTCTCC TGTGTGCCTG CCTCCTGCCG CCGCCACCAT : 2 1 : M : 1 37034285 : GACCACCTCC ATCCGCCAGT TCACCTCCTC CAGCTCCATC AAGGGCTCCT : 37034236 3 : GACCACCTCC ATCCGCCAGT TCACCTCCTC CAGCTCCATC AAGGGCTCCT : 52 2 : T T S I R Q F T S S S S I K G S : 17 37034235 : CCGGCCTGGG GGGCGGCTCG TCCCGCACCT CCTGCCGGCT GTCTGGCGGC : 37034186 53 : CCGGCCTGGG GGGCGGCTCG TCCCGCACCT CCTGCCGGCT GTCTGGCGGC : 102 18 : S G L G G G S S R T S C R L S G G : 34 37034185 : CTGGGTGCCG GCTCCTGCAG GCTGGGATCT GCTGGCGGCC TGGGCAGCAC : 37034136 103 : CTGGGTGCCG GCTCCTGCAG GCTGGGATCT GCTGGCGGCC TGGGCAGCAC : 152 35 : L G A G S C R L G S A G G L G S T : 51 37034135 : CCTCGGGGGT AGCAGCTACT CCAGCTGCTA CAGCTTTGGC TCTGGTGGTG : 37034086 153 : CCTCGGGGGT AGCAGCTACT CCAGCTGCTA CAGCTTTGGC TCTGGTGGTG : 202 52 : L G G S S Y S S C Y S F G S G G : 67 37034085 : GCTATGGCAG CAGCTTTGGG GGTGTTGATG GGCTGCTGGC TGGAGGTGAG : 37034036 203 : GCTATGGCAG CAGCTTTGGG GGTGTTGATG GGCTGCTGGC TGGAGGTGAG : 252 68 : G Y G S S F G G V D G L L A G G E : 84 VARIANTS : C A : VARIANTS VARIANTS : A C ddd dddddddddd dd : VARIANTS VARIANTS : C GG TA C dddG C : VARIANTS 37034035 : AAGGCCACCA TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA : 37033986 253 : AAGGCCACCA TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA : 302 85 : K A T M Q N L N D R L A S Y L D K : 101 VARIANTS : T D H P d D P : VARIANTS VARIANTS : K H dd dddddddddd d : VARIANTS VARIANTS : S C Q : VARIANTS VARIANTS : P : VARIANTS VARIANTS : A C G : VARIANTS 37033985 : GGTGCGTGCC CTGGAGGAGG CCAACACTGA GCTGGAGGTG AAGATCCGTG : 37033936 303 : GGTGCGTGCC CTGGAGGAGG CCAACACTGA GCTGGAGGTG AAGATCCGTG : 352 102 : V R A L E E A N T E L E V K I R : 117 VARIANTS : M D : VARIANTS 37033935 : ACTGGTACCA GAGGCAGGCC CCGGGGCCCG CCCGTGACTA CAGCCAGTAC : 37033886 353 : ACTGGTACCA GAGGCAGGCC CCGGGGCCCG CCCGTGACTA CAGCCAGTAC : 402 118 : D W Y Q R Q A P G P A R D Y S Q Y : 134 37033885 : TACAGGACAA TTGAGGAGCT GCAGAACAAG GTAGGGCCTG CTGGTGGGAG : 37033836 403 : TACAGGACAA TTGAGGAGCT GCAGAACAAG : 432 135 : Y R T I E E L Q N K : 144 37033835 : GGGTCTCCGG GGGGCATGAC TTCTTCCCCC CAACTCCTGC CTTGGCCAAA : 37033786 37033785 : GGCCTGGAGT CCAGCCATAG GGTCTCAGGG AGCCAAGGGT GGTTTGGCTG : 37033736 37033735 : TGGCTTAGCT TCTGGGAACC TGCCTTGGGG CCCCTGTGTG GCTCACATCC : 37033686 37033685 : CCCTTTTCTG GGGACAGCAA GCTGAGTCAG GAACAAAGAG GCCTTGTGGA : 37033636 37033635 : GCCCCTTGGA GCCTCAGTTT CTCCCTCGTG GAGCTCCGCC ACCTGGAGAG : 37033586 37033585 : GTTGTAGGAT GAGGCAGGAG GATGCAGATG GAGGGCTGGG CCCGTGGGCT : 37033536 37033535 : GCTGGATGTG TGGTGTCTTG CTCCTTTGGA GCAGGGGTCA ACAGGAGGGG : 37033486 37033485 : GTTTTGGGTG ATGTGGAGTG GGGGTGTCTG AGTGAGCTCC TGATAGCACC : 37033436 37033435 : TGCTGCAGGA GGAGGCAGAA AGGAGGGGGC GGGACCTCAG TGTGGGGAAG : 37033386 37033385 : GCCTCTGATG TGCCTTATTT GGGGATTTTT CTGGCTTCTC CTTTCCTCCT : 37033336 37033335 : GCTGTCCCTT AAGACGGGCT CAGCAAACCC CAGGGGGCGG GGCTGCTGGC : 37033286 37033285 : TGGCGCCCAG GGTTAGGGAT TAGGAGGGGT CCTGACTTTT GATTTGGAAC : 37033236 37033235 : CACTCTTTAA TGAGGGCTCC TTTAGCCTCC TTTTGGGGGA GCCTGTCAGG : 37033186 37033185 : GGCACCCTCT AGCTGACTGT AAAACGAGGG GGTTGCCCAC ATCCCCTCCC : 37033136 37033135 : TTGTTCTAGA ATTCTGGGAC AGCTTCTGCC CTGGGGACAT TTTCCCATTC : 37033086 37033085 : TTTTCTGGTT GCCTCATACT CCCAGCCAGC TGTCTCTTCT CCTTTAAGGC : 37033036 37033035 : CGAGCCTGCC ATGGGGGTCT GGTGGGGTAC TGAGTATCGG GGGAAGAAGA : 37032986 37032985 : GGCACCTTTC AGCCCTTCAG ACTCCTGTTT GCCCCTCCTC TGCCAATAAT : 37032936 37032935 : ACAGCACGGG GCAAGGGAGG GGCTGGGCGA GAAGAGAGGC CCTGAGGCAG : 37032886 37032885 : GAAGATCTGC TCAGAACCCT GGTGTGGGCT CAGCCACCCC CATCCAATGA : 37032836 37032835 : CCTGACTACT CTCCCTTCTC CTCAGATCCT CACAGCCACC GTGGACAATG : 37032786 433 : ATCCT CACAGCCACC GTGGACAATG : 457 145 : I L T A T V D N : 152 37032785 : CCAACATCCT GCTACAGATT GACAATGCCC GTCTGGCTGC TGATGACTTC : 37032736 458 : CCAACATCCT GCTACAGATT GACAATGCCC GTCTGGCTGC TGATGACTTC : 507 153 : A N I L L Q I D N A R L A A D D F : 169 37032735 : CGCACCAAGT GAGTCCTAGC TGTGGCCTTG GGCAGCCTGG GCCAGCTGGC : 37032686 508 : CGCACCAA : 515 170 : R T K : 172 37032685 : GGAGGATCTC AGGGTACCCC TCCTGACCCC AGGATTCCTT GGTTGCTTGT : 37032636 37032635 : GGCAAGGCCC AGGAGCTCAG GGTGGGGCAG TCCTAGGAGC CCCACTCCTT : 37032586 37032585 : AGTCCAGGAT GCAGTGAAGG CAGCCAGTTC TGAAGGTTGC TGAGCTTAGG : 37032536 37032535 : CAGGGAATAG AAGAGAAGGA GGGGAGGCGG GAGGCGGGAG GCAGAGAGAA : 37032486 37032485 : GTAAGGAAGC TGGTGGGCGT GGGATCTGGC CCTGTGATGG TCCCGGGGTC : 37032436 37032435 : CCGGGGCTGG AATTCGTTTC CACTCGACCC TCTCATCAGC CCTTCCAACT : 37032386 37032385 : CCTTAGAGTC CTGGCAAAAT GAAGGCAGGT GAGCAGCCAG GACCTGGATC : 37032336 37032335 : TGCAGGTCCA AGCAGCCTGG GCTGAAGTCT CTGATTCCCA CGGCAGGTTT : 37032286 516 : GTTT : 519 173 : F : 173 37032285 : GAGACAGAGC AGGCCCTGCG CCTGAGTGTG GAGGCCGACA TCAATGGCCT : 37032236 520 : GAGACAGAGC AGGCCCTGCG CCTGAGTGTG GAGGCCGACA TCAATGGCCT : 569 174 : E T E Q A L R L S V E A D I N G L : 190 37032235 : GCGCAGGGTG CTGGATGAGC TGACCCTGGC CAGAGCCGAC CTGGAGATGC : 37032186 570 : GCGCAGGGTG CTGGATGAGC TGACCCTGGC CAGAGCCGAC CTGGAGATGC : 619 191 : R R V L D E L T L A R A D L E M : 206 37032185 : AGATTGAGAA CCTCAAGGAG GAGCTGGCCT ACCTGAAGAA GAACCACGAG : 37032136 620 : AGATTGAGAA CCTCAAGGAG GAGCTGGCCT ACCTGAAGAA GAACCACGAG : 669 207 : Q I E N L K E E L A Y L K K N H E : 223 37032135 : GAGGTGAGGT GGCTGGGGCA GAAGGTCAAA GATGCTGAGG AGTGGGTGGC : 37032086 670 : GAG : 672 224 : E : 224 37032085 : AGAGCCCTGG GGCTGGGCAA TGGCTGAGGC CGTGGGAGAG AGCAGAGCAG : 37032036 37032035 : GTGCACCGGG ATTAGTCACC TTAGAGGGCT TCCCTGTCTG CAGAGCCCTG : 37031986 37031985 : ATCCTTGGGG TCCAGTGTGC AGGGCAGACT CCTCTTTGTA CCACACTGCT : 37031936 37031935 : TCTCTGTACA CAAGGAACCT CCCAGGGGCC TGCAGAGGCT CCCTCTACCT : 37031886 37031885 : ACCCTGCCTC CCTCATGAGG GTGGGGGATA AGTAAGGAAA TCTTGTCCCA : 37031836 37031835 : TTTCAAACTC TCAAAGCTGA ACATCTACAT AGAAGCTTGG AAATTAGAGG : 37031786 37031785 : GGAACTTTTG GGGGCATAGG CCTAATAATT AGATTTTATT TTGGAGAGTC : 37031736 37031735 : CTTGGTCTAA TGGGGGAGAT AGAGTCTGAT GGTGGAGGCA ATACTGAGCA : 37031686 37031685 : GATGAATAAA AATCATTTAG AGGGTCAGAT AGAGCAGAGG GAGAACAAAG : 37031636 37031635 : GAGGGGTCCT TGTGGGAAGT GGGGTCCCCT TGTGGGGGAA GGCTTGGGAG : 37031586 37031585 : TGAGAGGTCA GGATGGGTCC AGATGCGCAC ATCCACATCC CCTTTTTCCA : 37031536 37031535 : TAGGAGATGA ACGCCCTGCG AGGCCAGGTG GGTGGTGAGA TCAATGTGGA : 37031486 673 : GAGATGA ACGCCCTGCG AGGCCAGGTG GGTGGTGAGA TCAATGTGGA : 719 225 : E M N A L R G Q V G G E I N V E : 240 37031485 : GATGGACGCT GCCCCAGGCG TGGACCTGAG CCGCATCCTC AACGAGATGC : 37031436 720 : GATGGACGCT GCCCCAGGCG TGGACCTGAG CCGCATCCTC AACGAGATGC : 769 241 : M D A A P G V D L S R I L N E M : 256 37031435 : GTGACCAGTA TGAGAAGATG GCAGAGAAGA ACCGCAAGGA TGCCGAGGAT : 37031386 770 : GTGACCAGTA TGAGAAGATG GCAGAGAAGA ACCGCAAGGA TGCCGAGGAT : 819 257 : R D Q Y E K M A E K N R K D A E D : 273 37031385 : TGGTTCTTCA GCAAGGTGGG GGGTGCTGCA GGCCAGAGGG CTCTCTTAGG : 37031336 820 : TGGTTCTTCA GCAAG : 834 274 : W F F S K : 278 37031335 : GGCTGGGGCT CAGGGGCCTT AGCACTGACA GTAAGCCCAC GGCCAGATGT : 37031286 37031285 : CTTGGAGGTG CCCCTCCTCA GTAAGCTGCA TGGACCACAG GGTCACCCAC : 37031236 37031235 : TGCATCAACA GACATGGAGC TGAGCTCAAG CTGGGATCTG GCGGGTGGGT : 37031186 37031185 : GGGGAGGTAG GGAGCTCCCT CAGAATAAAG GCAGAGGGTA AAGACCTTGG : 37031136 37031135 : GAGTCCCCAC GTCTCCCTCA AGAAGTCAGG AACTAGCATC AAGAGCCAGG : 37031086 37031085 : CTACATGTTC TGGCTTGTTC TCAAGTTTCC GGTCTGTGCC TCCCACACGC : 37031036 37031035 : TGGGATTAAC CATAAAAAGT TAACATTTCA AATGGCATGT TTCTGGGCTT : 37030986 37030985 : TGGGATGTGG GAAGCTGGTG AGAAGGCACA CTCTCTCCAC AGTTAGATTT : 37030936 37030935 : GGGAGGAGGC CTGACTTGGG AGAGGGATCC AGGCTCACAC CGCCCTGTCC : 37030886 37030885 : TGTGTCCTGT CTGCAGACAG AGGAACTGAA CCGCGAGGTG GCCACCAACA : 37030836 835 : ACAG AGGAACTGAA CCGCGAGGTG GCCACCAACA : 868 279 : T E E L N R E V A T N : 289 37030835 : GTGAGCTGGT GCAGAGTGGC AAGAGTGAGA TCTCGGAGCT CCGGCGCACC : 37030786 869 : GTGAGCTGGT GCAGAGTGGC AAGAGTGAGA TCTCGGAGCT CCGGCGCACC : 918 290 : S E L V Q S G K S E I S E L R R T : 306 37030785 : ATGCAGGCCT TGGAGATAGA GCTGCAGTCC CAGCTCAGCA TGGTAGGAAC : 37030736 919 : ATGCAGGCCT TGGAGATAGA GCTGCAGTCC CAGCTCAGCA TG : 960 307 : M Q A L E I E L Q S Q L S M : 320 37030735 : AGTCCTGTGC ATGGGGGAGG GCCCAGAAGA GGGCATTGAC CATCCTCACT : 37030686 37030685 : GACCCCTGGT CTTCCTGCCC TCCTGCAGAA AGCATCCCTG GAGGGCAACC : 37030636 961 : AA AGCATCCCTG GAGGGCAACC : 982 321 : K A S L E G N : 327 37030635 : TGGCGGAGAC AGAGAACCGC TACTGCGTGC AGCTGTCCCA GATCCAGGGG : 37030586 983 : TGGCGGAGAC AGAGAACCGC TACTGCGTGC AGCTGTCCCA GATCCAGGGG : 1032 328 : L A E T E N R Y C V Q L S Q I Q G : 344 37030585 : CTGATTGGCA GCGTGGAGGA GCAGCTGGCC CAGCTTCGCT GCGAGATGGA : 37030536 1033 : CTGATTGGCA GCGTGGAGGA GCAGCTGGCC CAGCTTCGCT GCGAGATGGA : 1082 345 : L I G S V E E Q L A Q L R C E M E : 361 37030535 : GCAGCAGAAC CAGGAATACA AAATCCTGCT GGATGTGAAG ACGCGGCTGG : 37030486 1083 : GCAGCAGAAC CAGGAATACA AAATCCTGCT GGATGTGAAG ACGCGGCTGG : 1132 362 : Q Q N Q E Y K I L L D V K T R L : 377 VARIANTS : C : VARIANTS 37030485 : AGCAGGAGAT TGCCACCTAC CGCCGCCTGC TGGAGGGAGA GGATGCCCAG : 37030436 1133 : AGCAGGAGAT TGCCACCTAC CGCCGCCTGC TGGAGGGAGA GGATGCCCA : 1181 378 : E Q E I A T Y R R L L E G E D A H : 394 VARIANTS : P : VARIANTS 37030435 : TGAGTGGGGG CGCCTGGGGT CAGGGCTGGG GGTCTCTTGG CAGGGGTGGG : 37030386 37030385 : GCTCTCAGAC CCACATCTAA TTTCCTCTCT GTTTTTTTTT TTCTTTCAGC : 37030336 1182 : C : 1182 37030335 : CTGACTCAGT ACAAGAAAGA ACGTAAGTAT CTGCGTGGCT TCGGCCCTGG : 37030286 1183 : CTGACTCAGT ACAAGAAAGA AC : 1204 395 : L T Q Y K K E : 401 37030285 : GGGTTGGGTG CATGGGACAG GCAGCCCACC TGCACGTTGC TGGGGCAGGG : 37030236 37030235 : TCCCCAGGAG CTCCAGGAGT TGATGGCTGT CCCTCAGCAG GGAGAAGTGA : 37030186 37030185 : CTCATTAGCA CTGAGGATTG ATACTCAGGA AAAGATCAAA TGAGAGAGAC : 37030136 37030135 : ACTGTCTGGT CTGATGGGGG TGGGGCAGGG AACTGGTCCT TACCTTGGAG : 37030086 37030085 : ATCCTAGTCT GATGGAGGAG ACAGGTCCCA GCTCTGGAGA TTGTCATCTG : 37030036 37030035 : ATGGGAAGAT AGGAACATGG TCTCATGATC TTTGCTCTTG ACAGCTTTTG : 37029986 37029985 : GATGAGCAAA AACAGTCCTG TCTCTGGGGT CTGTAGCCTG ATGGGAGATA : 37029936 37029935 : GGGACATGGT CCTTGTCCTC CAAATTCCAA TCTGATGGAG AATATATGAT : 37029886 37029885 : CCTAGCCTTA GGGTTCCTAG TCTAATGGAG GAGATAGGGG CCTGGTTTTT : 37029836 37029835 : GTCTTGGCGA TCCCAGTCTG ATGGGGGAGA TGGTAGAAAA TCTATGTCCT : 37029786 37029785 : AGAGACTGCA GAGAAATGGA GACGGATTTC ATGGAGTCTA CATGGCTCCT : 37029736 37029735 : CCCTGGCAGG ACACACTGGA TCAGAATCAA ATAACCCATC TGGGGAGGCA : 37029686 37029685 : AGACTCACAC AGGGCCACCG GCAGAGGGAT GGGATGGAAG GGAGGTGGTG : 37029636 37029635 : GCAGGGACAG GAGGGATGTG TGTGCAGTGT GATGTCGAGG TGCCAGTGGA : 37029586 37029585 : GGCACTCACA GCACCTGGGG GAGGATGAGG GAGAGAGCCG GCTCCTGTCC : 37029536 37029535 : ATGAGGGCTA GGGGGCAAGC GAGGGCCTCC TGGCCCCTAC CCACTTTAAA : 37029486 37029485 : TTGCCTGCTT CTCCTGCAGC GGTGACCACC CGTCAGGTGC GTACCATTGT : 37029436 1205 : C GGTGACCACC CGTCAGGTGC GTACCATTGT : 1235 402 : P V T T R Q V R T I V : 412 37029435 : GGAAGAGGTC CAGGATGGCA AGGTCATCTC CTCCCGCGAG CAGGTCCACC : 37029386 1236 : GGAAGAGGTC CAGGATGGCA AGGTCATCTC CTCCCGCGAG CAGGTCCACC : 1285 413 : E E V Q D G K V I S S R E Q V H : 428 37029385 : AGACCACCCG CTGAGGACTC AGCTACCCCG GCCGGCCACC CAGGAGGCAG : 37029336 1286 : AGACCACCCG CTGAGGACTC AGCTACCCCG GCCGGCCACC CAGGAGGCAG : *36 429 : Q T T R : 432 37029335 : GGAGGCAGCC GCCCCATCTG CCCCACAGTC TCCGGCCTCT CCAGCCTCAG : 37029286 *37 : GGA-GCAGCC GCCCCATCTG CCCCACAGTC TCCGGCCTCT CCAGCCTCAG : *85 37029285 : CCCCCTGCTT CAGTCCCTTC CCCATGCTTC CTTGCCTGAT GACAATAAAG : 37029236 *86 : CCCCCTGCTT CAGTCCCTTC CCCATGCTTC CTTGCCTGAT GACAATAAAG : *135 37029235 : CTTGTTGACT CAGCTA---- ---------- : 37029220 *136 : CTTGTTGACT CAGCTAAAAA AAAAAAAAAA : *165 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:01:18 RefSeq ID NM_000422.1 GI 4557700 Length 1512 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -48 CTCCTCTCCA GCCCTTCTCC TGTGTGCCTG CCTCCTGCCG CCGCCACCAT 2 3 GACCACCTCC ATCCGCCAGT TCACCTCCTC CAGCTCCATC AAGGGCTCCT 52 53 CCGGCCTGGG GGGCGGCTCG TCCCGCACCT CCTGCCGGCT GTCTGGCGGC 102 103 CTGGGTGCCG GCTCCTGCAG GCTGGGATCT GCTGGCGGCC TGGGCAGCAC 152 153 CCTCGGGGGT AGCAGCTACT CCAGCTGCTA CAGCTTTGGC TCTGGTGGTG 202 203 GCTATGGCAG CAGCTTTGGG GGTGTTGATG GGCTGCTGGC TGGAGGTGAG 252 253 AAGGCCACCA TGCAGAACCT CAATGACCGC CTGGCCTCCT ACCTGGACAA 302 303 GGTGCGTGCC CTGGAGGAGG CCAACACTGA GCTGGAGGTG AAGATCCGTG 352 353 ACTGGTACCA GAGGCAGGCC CCGGGGCCCG CCCGTGACTA CAGCCAGTAC 402 403 TACAGGACAA TTGAGGAGCT GCAGAACAAG ATCCTCACAG CCACCGTGGA 452 453 CAATGCCAAC ATCCTGCTAC AGATTGACAA TGCCCGTCTG GCTGCTGATG 502 503 ACTTCCGCAC CAAGTTTGAG ACAGAGCAGG CCCTGCGCCT GAGTGTGGAG 552 553 GCCGACATCA ATGGCCTGCG CAGGGTGCTG GATGAGCTGA CCCTGGCCAG 602 603 AGCCGACCTG GAGATGCAGA TTGAGAACCT CAAGGAGGAG CTGGCCTACC 652 653 TGAAGAAGAA CCACGAGGAG GAGATGAACG CCCTGCGAGG CCAGGTGGGT 702 703 GGTGAGATCA ATGTGGAGAT GGACGCTGCC CCAGGCGTGG ACCTGAGCCG 752 753 CATCCTCAAC GAGATGCGTG ACCAGTATGA GAAGATGGCA GAGAAGAACC 802 803 GCAAGGATGC CGAGGATTGG TTCTTCAGCA AGACAGAGGA ACTGAACCGC 852 853 GAGGTGGCCA CCAACAGTGA GCTGGTGCAG AGTGGCAAGA GTGAGATCTC 902 903 GGAGCTCCGG CGCACCATGC AGGCCTTGGA GATAGAGCTG CAGTCCCAGC 952 953 TCAGCATGAA AGCATCCCTG GAGGGCAACC TGGCGGAGAC AGAGAACCGC 1002 1003 TACTGCGTGC AGCTGTCCCA GATCCAGGGG CTGATTGGCA GCGTGGAGGA 1052 1053 GCAGCTGGCC CAGCTTCGCT GCGAGATGGA GCAGCAGAAC CAGGAATACA 1102 1103 AAATCCTGCT GGATGTGAAG ACGCGGCTGG AGCAGGAGAT TGCCACCTAC 1152 1153 CGCCGCCTGC TGGAGGGAGA GGATGCCCAC CTGACTCAGT ACAAGAAAGA 1202 1203 ACCGGTGACC ACCCGTCAGG TGCGTACCAT TGTGGAAGAG GTCCAGGATG 1252 1253 GCAAGGTCAT CTCCTCCCGC GAGCAGGTCC ACCAGACCAC CCGCTGAGGA *3 *4 CTCAGCTACC CCGGCCGGCC ACCCAGGAGG CAGGGAGCAG CCGCCCCATC *53 *54 TGCCCCACAG TCTCCGGCCT CTCCAGCCTC AGCCCCCTGC TTCAGTCCCT *103 *104 TCCCCATGCT TCCTTGCCTG ATGACAATAA AGCTTGTTGA CTCAGCTAAA *153 *154 AAAAAAAAAA AA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:01:18 RefSeq ID NP_000413.1 GI 4557701 Isoelectric Point 4.6747 Molecular Weight 48105.5 Daltons Length 432 amino acids Download File | Text Sequence 1 MTTSIRQFTS SSSIKGSSGL GGGSSRTSCR LSGGLGAGSC RLGSAGGLGS 50 51 TLGGSSYSSC YSFGSGGGYG SSFGGVDGLL AGGEKATMQN LNDRLASYLD 100 101 KVRALEEANT ELEVKIRDWY QRQAPGPARD YSQYYRTIEE LQNKILTATV 150 151 DNANILLQID NARLAADDFR TKFETEQALR LSVEADINGL RRVLDELTLA 200 201 RADLEMQIEN LKEELAYLKK NHEEEMNALR GQVGGEINVE MDAAPGVDLS 250 251 RILNEMRDQY EKMAEKNRKD AEDWFFSKTE ELNREVATNS ELVQSGKSEI 300 301 SELRRTMQAL EIELQSQLSM KASLEGNLAE TENRYCVQLS QIQGLIGSVE 350 351 EQLAQLRCEM EQQNQEYKIL LDVKTRLEQE IATYRRLLEG EDAHLTQYKK 400 401 EPVTTRQVRT IVEEVQDGKV ISSREQVHQT TR Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 84 1A 85 119 L1 120 130 1B 131 231 L12 232 247 2A 248 266 L2 267 274 2B 275 395 Tail 396 432 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2010-02-01 14:57:56 Clone Name Species Reported Specificity Epitope Reference 2D4-1G9 mouse K17 - Turashvili et al, 2007 8.7 mouse K14, K17 - Vos et al, 1992, Vos et al, 1993 C46 mouse K7, K17 - Hazelbag et al, 1995 E-3 mouse K17 - Guelstein et al, 1988 LP1K mouse K7, K17 - Lane et al, 1985 PKK1 mouse K7, K8, K17, K18, K19 - Holthöfer et al, 1984, Vigneswaran et al, 1990, Tatemoto et al, 1988 PKK2 mouse K7, K16, K17, K19 - Holthöfer et al, 1984, Juhl et al, 1989 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 363. Information last updated on 2007-08-17 12:22:44 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 287702 NM_212545.2 NP_997710.1 Rodents Mus musculus 16667 NM_010663.1 NP_034793.1 Rodents Pan troglodytes 468261 XM_523650.2 XP_523650.2 Primates Canis familiaris 490977 XM_548100.2 XP_548100.1 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 2009-10-12 17:06:24 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Pachyonychia congenita type 1 PC-1 #167200 Pachyonychia congenita type 2 PC-2 #167210 Steatocystoma multiplex SM #184500 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 2009-10-12 17:06:24 * 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 13515 c.281G>A Substitution p.Arg94His Substitution - SM Wang et al, 2009 13517 c.275A>G Substitution p.Asn92Ser Substitution - SM Wang et al, 2009 13655 c.1112T>C Substitution p.Leu371Pro Substitution - SM Gass et al, 2009 9362 c.263T>C Substitution p.Met88Thr Substitution 1A PC-2 Celebi et al, 1999 9293 c.263T>C Substitution p.Met88Thr Substitution 1A PC-2 Oh et al, 2006 12595 c.263T>C Substitution p.Met88Thr Substitution 1A PC-2 Oh Adib et al, 2008 13210 c.263T>A Substitution p.Met88Lys Substitution 1A PC-2 Tsuda et al, 2008 9350 c.274A>G Substitution p.Asn92Asp Substitution 1A PC-2 McLean et al, 1995 9356 c.274A>C Substitution p.Asn92His Substitution 1A SM Smith et al, 1997 9351 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 1997 11328 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 1997 11329 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 1997 11330 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 1997 9358 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Fujimoto et al, 1998 9361 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Covello et al, 1998 9618 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Feng et al, 2003 9115 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 2005 11511 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Smith et al, 2005 12036 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-1 Liao et al, 2007 13226 c.275A>G Substitution p.Asn92Ser Substitution 1A PC-2 Cogulu et al, 2008 9359 c.280C>T Substitution p.Arg94Cys Substitution 1A PC-2 Covello et al, 1998 9360 c.280C>T Substitution p.Arg94Cys Substitution 1A PC-2 Covello et al, 1998 9363 c.280_294del15 Deletion p.Arg94_Tyr98del Deletion 1A PC-2 Smith et al, 2001 9613 c.280C>T Substitution p.Arg94Cys Substitution 1A PC-2 Wang et al, 2001 9357 c.281G>A Substitution p.Arg94His Substitution 1A SM Smith et al, 1997 9611 c.281G>C Substitution p.Arg94Pro Substitution 1A PC-2 Smith et al, 2001 9616 c.281G>A Substitution p.Arg94His Substitution 1A PC-2 Terrinoni et al, 2001 9612 c.284T>A Substitution p.Leu95Gln Substitution 1A PC-2 Smith et al, 2001 9614 c.284T>C Substitution p.Leu95Pro Substitution 1A PC-2 Terrinoni et al, 2001 9364 c.289_291delTCC Deletion p.Ser97del Deletion 1A PC-2 Terrinoni et al, 2001 9355 c.292T>G Substitution p.Tyr98Asp Substitution 1A PC-2 Smith et al, 1997 9615 c.296T>C Substitution p.Leu99Pro Substitution 1A PC-2 Terrinoni et al, 2001 13388 c.296T>C Substitution p.Leu99Pro Substitution 1A PC-2 Kanda et al, 2009 12605 c.296T>C Substitution p.Leu99Pro Substitution 1A PC-2 Wu et al, 2008 9617 c.304G>A Substitution p.Val102Met Substitution 1A PC-2 Hashiguchi et al, 2002 8956 c.304G>A Substitution p.Val102Met Substitution 1A PC-2 Uchida et al, 2005 9113 c.325A>G Substitution p.Asn109Asp Substitution 1A PC-2 Xiao et al, 2004 9114 c.1163T>C Substitution p.Leu388Pro Substitution 2B PC-2 Smith et al, 2005 Back to top

ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2006-09-26 08:50:20 * 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 Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 8425 c.309T>C Substitution p.= Silent Not affected - - Hashiguchi et al, 2002 Back to top