Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:58:36 * 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 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 36276988 : AGTTGTGGCC ACCTTCCCCA GGCCATGGAT CTCTCCAACA ACACCATGTC : 36276939 -24 : AGTTGTGGCC ACCTTCCCCA GGCCATGGAT CTCTCCAACA ACACCATGTC : 26 1 : M D L S N N T M S : 9 VARIANTS : T T : VARIANTS 36276938 : ACTCTCAGTG CGCACCCCCG GACTGTCCCG GCGGCTCTCC TCGCAGAGTG : 36276889 27 : ACTCTCAGTG CGCACCCCCG GACTGTCCCG GCGGCTCTCC TCGCAGAGTG : 76 10 : L S V R T P G L S R R L S S Q S : 25 VARIANTS : S W : VARIANTS 36276888 : TGATAGGCAG ACCCAGGGGC ATGTCTGCTT CCAGTGTTGG AAGTGGTTAT : 36276839 77 : TGATAGGCAG ACCCAGGGGC ATGTCTGCTT CCAGTGTTGG AAGTGGTTAT : 126 26 : V I G R P R G M S A S S V G S G Y : 42 36276838 : GGGGGAAGTG CCTTTGGCTT TGGAGCCAGC TGTGGGGGAG GCTTTTCTGC : 36276789 127 : GGGGGAAGTG CCTTTGGCTT TGGAGCCAGC TGTGGGGGAG GCTTTTCTGC : 176 43 : G G S A F G F G A S C G G G F S A : 59 36276788 : TGCTTCCATG TTTGGTTCTA GTTCCGGCTT TGGGGGTGGC TCCGGAAGTT : 36276739 177 : TGCTTCCATG TTTGGTTCTA GTTCCGGCTT TGGGGGTGGC TCCGGAAGTT : 226 60 : A S M F G S S S G F G G G S G S : 75 36276738 : CCATGGCAGG AGGACTGGGT GCTGGTTATG GGAGAGCCCT GGGTGGAGGT : 36276689 227 : CCATGGCAGG AGGACTGGGT GCTGGTTATG GGAGAGCCCT GGGTGGAGGT : 276 76 : S M A G G L G A G Y G R A L G G G : 92 36276688 : AGCTTTGGAG GGCTGGGGAT GGGATTTGGG GGCAGCCCAG GAGGTGGCTC : 36276639 277 : AGCTTTGGAG GGCTGGGGAT GGGATTTGGG GGCAGCCCAG GAGGTGGCTC : 326 93 : S F G G L G M G F G G S P G G G S : 109 36276638 : TCTAGGTATT CTCTCGGGCA ATGATGGAGG CCTTCTTTCT GGATCAGAAA : 36276589 327 : TCTAGGTATT CTCTCGGGCA ATGATGGAGG CCTTCTTTCT GGATCAGAAA : 376 110 : L G I L S G N D G G L L S G S E : 125 VARIANTS : T : VARIANTS VARIANTS : C C G GCC C G : VARIANTS 36276588 : AAGAAACTAT GCAAAATCTT AATGATAGAT TAGCTTCCTA CCTGGATAAG : 36276539 377 : AAGAAACTAT GCAAAATCTT AATGATAGAT TAGCTTCCTA CCTGGATAAG : 426 126 : K E T M Q N L N D R L A S Y L D K : 142 VARIANTS : T P K T P R : VARIANTS VARIANTS : I : VARIANTS VARIANTS : G : VARIANTS VARIANTS : S : VARIANTS VARIANTS : T : VARIANTS VARIANTS : C : VARIANTS 36276538 : GTGCGAGCTC TAGAAGAGGC TAATACTGAG CTAGAAAATA AAATTCGAGA : 36276489 427 : GTGCGAGCTC TAGAAGAGGC TAATACTGAG CTAGAAAATA AAATTCGAGA : 476 143 : V R A L E E A N T E L E N K I R E : 159 VARIANTS : L : VARIANTS VARIANTS : L : VARIANTS 36276488 : ATGGTATGAA ACACGAGGAA CTGGGACTGC AGATGCTTCA CAGAGCGATT : 36276439 477 : ATGGTATGAA ACACGAGGAA CTGGGACTGC AGATGCTTCA CAGAGCGATT : 526 160 : W Y E T R G T G T A D A S Q S D : 175 36276438 : ACAGCAAATA TTATCCACTG ATTGAAGACC TCAGGAATAA GGTAAGATCT : 36276389 527 : ACAGCAAATA TTATCCACTG ATTGAAGACC TCAGGAATAA G : 567 176 : Y S K Y Y P L I E D L R N K : 189 36276388 : CTTTTGGAGG CGCTTTGGGA ATTTTTTTTT TCCTTTTTAC CATTACAATG : 36276339 36276338 : TTTTACAGTG ATAATCACCT ACAACTTTGA TATTTTCCAA TTTAGCTGTA : 36276289 36276288 : CTTGCAGCAA TTTTCTCATC CCAGGTTGTT TCACTCCACT TTATCATTTA : 36276239 36276238 : CTAAGAAATG ATTGTATTTC CATTATCTTT CTGTAGGAAA TCTGCATTTC : 36276189 36276188 : TTTACTTCTC AATATTATTT TATACAGATA TTGTCTTAGA AAAATGAAAC : 36276139 36276138 : TGTCTTAAAC TCTAAATAAA ACAGCATTTA ATATCACCAT TTTCACCTTT : 36276089 36276088 : GTGTCAAAAA TATATTTGTA TAATACTAGT CTTTTAGGGC TTCAATCTTG : 36276039 36276038 : TGTGTGTCCC TCTCTTTTGC CAGATCATTT CAGCCAGCAT TGGAAATGCC : 36275989 568 : ATCATTT CAGCCAGCAT TGGAAATGCC : 594 190 : I I S A S I G N A : 198 36275988 : CAGCTCCTCT TGCAGATTGA CAATGCGAGA CTAGCTGCTG AGGACTTCAG : 36275939 595 : CAGCTCCTCT TGCAGATTGA CAATGCGAGA CTAGCTGCTG AGGACTTCAG : 644 199 : Q L L L Q I D N A R L A A E D F R : 215 36275938 : GATGAAGTGA GTCGAATAAA CTGAAGATCA TGGGCGTGTC CCACCATGTC : 36275889 645 : GATGAA : 650 216 : M K : 217 36275888 : TTCTGTCCTA CTGTCCTGCC TTCATTGATA TAAAATCTTC TGAAGTTCAC : 36275839 36275838 : ATACTCCATA TATTTACTGT TTTGGTAAAT TCACATAGGG TGTTCTAGAA : 36275789 36275788 : AGTAATTAGA ATCTAATGCA ATTCAGATTA AATGTCCTTA AATTATAAGT : 36275739 36275738 : TACTTAAACC CAGGGCTATG GATCACGATA TTTGTAGTGT GCTATTGACT : 36275689 36275688 : CAACTCATGA TGTGACTGAC ACCATAATCC TACCAGTGTC CTAAACCTCA : 36275639 36275638 : ATTTTCTTTT TTTGTTTTTT GTTTTTTGTT TTTGAGATGG AGTCTCGCTC : 36275589 36275588 : TGTCACCCAG GCTGGAGTGC AGTGACGCGA TCTCGGCTCA CTGCAACCCC : 36275539 36275538 : TGCCTCCCAG GTTCAAGTGA TTCTCCTGCC TCAGCCTCCC GAGTAGCTGG : 36275489 36275488 : GATTACAGGC GGCTGCCACC GTGCCCAGCT AATTATTGTA TTTTTAGTAG : 36275439 36275438 : AGACGGGGTT TCACTATCTT GGCCAGGCTG GTCTCAAACT CCTGACCTCA : 36275389 36275388 : TGATCCACCC GCCTCTAAAC CTCAATTTTC AATGTATCAA CCATTGTTTT : 36275339 36275338 : CCTGATGACA CATACAATGG AAAGATTAAC CATGTACTAA TTTTTATATT : 36275289 36275288 : CCTTCCTCCT TTTCCATGCT CAACTCTCCC AGATATAGGT AAGAAATACT : 36275239 36275238 : AATTTCCTTT TTGCTTCACA AAATTTCTAC ACAGGAAGTT GCAATGGCCA : 36275189 36275188 : TGGTTCTGAA CCTGTAAAAT CTTAGTCAAA GCCACTAAAG AAGTATCAGT : 36275139 36275138 : GTTTTAAGTT AAATCATGAA GAACGTTAAG CAAAAAGAGT AACTTATTTT : 36275089 36275088 : CAACGGCTTT TAGAAATTCC ACTTAGAGAG GGGCTGCTGC TATTTACAGC : 36275039 36275038 : CACGGCAGCC AGCCAAAGGG AAAATTATTC CCTGGGATGC TGTGGTATTG : 36274989 36274988 : GGATTCATCG CTGGTAGGAA AGTATTGCCT TATAATTTAT TCACTTTTCT : 36274939 36274938 : TCTCCTCCCC AACTGAACAG TAAACAATGG TGGGAAAAAA GGAAAGGAAA : 36274889 36274888 : AACACAACAG CAAAAACTGC ATCATACACT ACAATGCTGC CATTATTAAG : 36274839 36274838 : TAGGTGCACA GATTTAAGCA AGAAATAGCC CTGAAGATCA GTGGCCTTGT : 36274789 36274788 : TCAAATGGTT GTGTTGATTC CCTCAACTGC TTTGCACTTG GTTTTCAGGT : 36274739 651 : GT : 652 36274738 : ATGAGAATGA ACTGGCCCTG CGCCAGGGCG TAGAGGCCGA CATCAATGGC : 36274689 653 : ATGAGAATGA ACTGGCCCTG CGCCAGGGCG TAGAGGCCGA CATCAATGGC : 702 218 : Y E N E L A L R Q G V E A D I N G : 234 36274688 : CTGCGCCGGG TGCTGGACGA GCTGACCCTG ACCAGGACCG ACCTGGAGAT : 36274639 703 : CTGCGCCGGG TGCTGGACGA GCTGACCCTG ACCAGGACCG ACCTGGAGAT : 752 235 : L R R V L D E L T L T R T D L E M : 251 36274638 : GCAGATCGAG AGCCTGAACG AGGAGCTGGC CTACATGAAG AAGAACCACG : 36274589 753 : GCAGATCGAG AGCCTGAACG AGGAGCTGGC CTACATGAAG AAGAACCACG : 802 252 : Q I E S L N E E L A Y M K K N H : 267 36274588 : AGGATGTGAG TCAGACAGGG CAGCCTCACT CAGCTACTTT TTTTTTTCTC : 36274539 803 : AGGAT : 807 268 : E D : 269 36274538 : CCAGACCCAA AAATTACAAT TTCAAATTTA GAAATCTGGA GTCAGGACAA : 36274489 36274488 : GTATGGAGAA TACATTGTCT CCCTGTTAAA ATGGCCATTT GTTTTAGATT : 36274439 36274438 : TCTGTGTGAT GTGTGTGGTA TGTGTGTGTG TGATGTGTGT GTGTTGGTAG : 36274389 36274388 : TAGTGATGGT GGTTCCTGCT AAGGCTCAAC AAATTTGAGG CACTTTCTGA : 36274339 36274338 : TTTTGTCATT TTCATTATAA GGCAATGACA ATAGGAATGC TAACAGTCCT : 36274289 36274288 : AATTCAGTGA TTTTAAAAAG ACTGAGTATT TTAAAAGTTA AAACAAAAGT : 36274239 36274238 : CTACCAATAA TATATAATGT TTTATATGTC AGAGAAACTG GTTATACTTA : 36274189 36274188 : GCATAATGCA CACCAGAAAA CTCTGAGGTG CCATGGTGCA TATTGGAGGC : 36274139 36274138 : TAGGTAGGGA AGGGATGCTG GCAATAGGAA GTTTCTACTA GATTTTCGAT : 36274089 36274088 : GATTGTGGCA CAAACAGCGT GCAAGCCCAG GTACTGTCTG CAGCCCTCGG : 36274039 36274038 : TTTGGCAGCT GTAGGTGAAA ACCCCAGTGA GTGTACGCCA GGCCTCCTTT : 36273989 36273988 : CACGTGAAGG TCGTGGTCCC TCAAGAAGCA GAGCCAACTT ACCCATTAGG : 36273939 36273938 : CACAGCAGGC ACTGCTCCCA GGGTCTGTGG TAATTTCAGG GACCCATGAA : 36273889 36273888 : TATGTCTTAA GTTCTTGTAA TATCAGAAGA AAAATATGAA TTTTGAGGTT : 36273839 36273838 : AAAAAAGTTT TAATGTATTA CATTAATATA TTTGTCTTTA TACCAACAGT : 36273789 36273788 : CATAAGATAG AATTTTTAAG TGTGTGTGTG TGTGTGTGTG TGTGTGTGTG : 36273739 36273738 : TGTGTGTAGG AAGGGGCCCA AGAGGACAAA AGTATCCAGG GCCCACGAAA : 36273689 36273688 : GTCACAATGG ACCCCTGTGC CCCTCTCTCT CACATGCTGT CCCCAGGAGC : 36273639 808 : GAGC : 811 270 : E : 270 36273638 : TCCAAAGCTT CCGGGTGGGC GGCCCAGGCG AGGTCAGCGT AGAAATGGAC : 36273589 812 : TCCAAAGCTT CCGGGTGGGC GGCCCAGGCG AGGTCAGCGT AGAAATGGAC : 861 271 : L Q S F R V G G P G E V S V E M D : 287 36273588 : GCTGCCCCCG GAGTGGACCT CACCAGGCTC CTCAATGATA TGCGGGCGCA : 36273539 862 : GCTGCCCCCG GAGTGGACCT CACCAGGCTC CTCAATGATA TGCGGGCGCA : 911 288 : A A P G V D L T R L L N D M R A Q : 304 36273538 : GTATGAAACC ATCGCTGAGC AGAATCGGAA GGACGCTGAA GCCTGGTTCA : 36273489 912 : GTATGAAACC ATCGCTGAGC AGAATCGGAA GGACGCTGAA GCCTGGTTCA : 961 305 : Y E T I A E Q N R K D A E A W F : 320 36273488 : TTGAAAAGGT AACACAAACA ACAAAGGCTT TGATACATTC ACAGAAAGGC : 36273439 962 : TTGAAAAG : 969 321 : I E K : 323 36273438 : CTGCGAACGA GCTCAGCGCT CGAGCCCCCT GGCTGTCTTT GCTGTTGCAG : 36273389 36273388 : AGCGGGGAGC TCCGTAAGGA GATTAGCACC AACACCGAGC AGCTTCAGTC : 36273339 970 : AGCGGGGAGC TCCGTAAGGA GATTAGCACC AACACCGAGC AGCTTCAGTC : 1019 324 : S G E L R K E I S T N T E Q L Q S : 340 36273338 : CAGCAAGAGC GAGGTCACCG ACCTGCGTCG CGCCTTTCAG AACCTGGAGA : 36273289 1020 : CAGCAAGAGC GAGGTCACCG ACCTGCGTCG CGCCTTTCAG AACCTGGAGA : 1069 341 : S K S E V T D L R R A F Q N L E : 356 36273288 : TCGAGCTACA GTCCCAGCTC GCCATGGTAG GCTCGTGCGC AAACAGACGT : 36273239 1070 : TCGAGCTACA GTCCCAGCTC GCCATG : 1095 357 : I E L Q S Q L A M : 365 36273238 : AGCATCCTTT GGACTTCCAA AGAAAATGCT GCATCCAAAT TACATTAGCC : 36273189 36273188 : GTTGGCTACC CTCCTCTTTT CGGTCCCCTC CATCGTTATT TCTATGCCAT : 36273139 36273138 : TTCCCTCCCA CGTGCAGAAG AAATCCCTGG AGGACTCCTT GGCCGAAGCC : 36273089 1096 : AAG AAATCCCTGG AGGACTCCTT GGCCGAAGCC : 1128 366 : K K S L E D S L A E A : 376 36273088 : GAGGGCGATT ACTGCGCGCA GCTGTCCCAG GTGCAGCAGC TCATCAGCAA : 36273039 1129 : GAGGGCGATT ACTGCGCGCA GCTGTCCCAG GTGCAGCAGC TCATCAGCAA : 1178 377 : E G D Y C A Q L S Q V Q Q L I S N : 393 VARIANTS : ii : VARIANTS 36273038 : CCTGGAGGCA CAGCTGCTCC AGGTGCGCGC GGACGCAGAG CGCCAGAACG : 36272989 1179 : CCTGGAGGCA CAGCTGCTCC AGGTGCGCGC GGACGCAGAG CGCCAGAACG : 1228 394 : L E A Q L L Q V R A D A E R Q N : 409 VARIANTS : iii i : VARIANTS VARIANTS : GG : VARIANTS 36272988 : TGGACCACCA GCGGCTGCTG AATGTCAAGG CCCGCCTGGA GCTGGAGATT : 36272939 1229 : TGGACCACCA GCGGCTGCTG AATGTCAAGG CCCGCCTGGA GCTGGAGATT : 1278 410 : V D H Q R L L N V K A R L E L E I : 426 VARIANTS : V : VARIANTS VARIANTS : S : VARIANTS VARIANTS : GG C G : VARIANTS 36272938 : GAGACCTACC GCCGCCTGCT GGACGGGGAG GCCCAAGGGT GAGCAGACAA : 36272889 1279 : GAGACCTACC GCCGCCTGCT GGACGGGGAG GCCCAAGG : 1316 427 : E T Y R R L L D G E A Q G : 439 VARIANTS : D P R : VARIANTS VARIANTS : C : VARIANTS 36272888 : CGGAGGCTGT AAACACCTTC AGGGGCTGAC CAAGAGTGGG CAGCAGAAAT : 36272839 36272838 : AGAAGGAATG GGGTTTTAGT TGACAGAAAA GCAAACAAAC AAACACAAGT : 36272789 36272788 : CTAGTAAAGA TATGCCTGGG ATTTACTAAA TGCTCTACAC TTTGCAAAGT : 36272739 36272738 : GTTTTCACCC ATTATCTTAC TTGATAATTC ATAAAATGCT GCAAAGAACA : 36272689 36272688 : AAGGCACCAC GGTCAGAAAC AGTTTGTAAA TGAGTACTCC CTGTACTATA : 36272639 36272638 : AAAGTCACTT ACTCAATTTC TGATATCAAA GACCTGATGA TAAGAAGGAC : 36272589 36272588 : ACATAGTAGC CACCTGAACC ACCTACTCTA ACAAGCTTTC CAAAAGTGAT : 36272539 36272538 : CAGAGTCTGC ACTAGTTGGA AGAACTCAGG CCTACAAATT GGGAAATCTA : 36272489 36272488 : ATTTCTCAGA CCAGATCTTC CATTAAAAGC CAGGTTGTTT CACTTTTTGA : 36272439 36272438 : GGTCATCTCC TTTGTTTTCT TACAGTGATG GTTTGGAGGA AAGTTTATTT : 36272389 1317 : TGATG GTTTGGAGGA AAGTTTATTT : 1341 440 : D G L E E S L F : 447 36272388 : GTGACAGACT CCAAATCACA AGCACAGTCA ACTGATTCCT CTAAAGGTAT : 36272339 1342 : GTGACAGACT CCAAATCACA AGCACAGTCA ACTGATTCCT CTAAAG : 1387 448 : V T D S K S Q A Q S T D S S K : 462 36272338 : GCAGAAACCC TAGAATCACT TAGAATAAGT CGGAATCACA TTTATTAATG : 36272289 36272288 : CAAAACCTGT AAGACCTCAT TGACTACTGC ATTATTATTA ATTTTAATTT : 36272239 36272238 : AAAGCATATT TATATTCTGA GCCAAGGAAA AACATTTATG CATTCCTGCA : 36272189 36272188 : CAAAATGAGT AGTCTATACC ATATTAAAAC TTTTGGGGGC CTGGGCATGG : 36272139 36272138 : TGGCTCATGC CTGTAACCTC ATAGCTTCGG GAACCTGAGG TGGGAGGATC : 36272089 36272088 : GCTTGAGGCC AGGAGTTCGT GACCCACCTG GGCAAATAGC GAGACCCCAT : 36272039 36272038 : CTCTACAAAA AACTTAAGAA AAAAAATAGC TGGGTGTGGT GGTGTATACC : 36271989 36271988 : TGTGATCTCG GCTACTCTGG AGGCTGAGGC AGGAGGACCG CTTGAGCCCG : 36271939 36271938 : GGAGTTAGAG GTTATAGTGA GCTATGATCA TGCCACTGCA TTCCTACCTG : 36271889 36271888 : GGCAACAGAG CCAGACCCTG TCTTTAAGAA AATTAAAATT AAAATTAAAA : 36271839 36271838 : AATAAAAAAA ATGGCAAAGC AGAAGGGAAA AAACCTACTC TGCTGCAAGG : 36271789 36271788 : TATTATGATC ACCATAACCA CCTTTGAAAT GTTTTCTTAA AAAAAGTTTT : 36271739 36271738 : CATATATGTA CAAGGCAACA CTGAATACAT TTCATTGTCA TTGGCTAAAA : 36271689 36271688 : CACATTTTTG AGAAGTAAAA TTTACTTTTG AAAGTTTAAT TAGATGGATT : 36271639 36271638 : GTATCAACCA ATGCTTAATT TAGAAGCCTA CATTAAACAA CCAGTGTTGG : 36271589 36271588 : ATTAATATTT GAAACACTAA CTCTTGCCCC CTTATTCCAT TTTTATCTTT : 36271539 36271538 : AGACCCAACC AAAACCCGAA AAATCAAGAC AGTTGTGCAG GAGATGGTGA : 36271489 1388 : ACCCAACC AAAACCCGAA AAATCAAGAC AGTTGTGCAG GAGATGGTGA : 1435 463 : D P T K T R K I K T V V Q E M V : 478 36271488 : ATGGTGAGGT GGTCTCATCT CAAGTTCAGG AAATTGAAGA ACTAATGTAA : 36271439 1436 : ATGGTGAGGT GGTCTCATCT CAAGTTCAGG AAATTGAAGA ACTAATGTAA : 1485 479 : N G E V V S S Q V Q E I E E L M : 494 36271438 : AATTTCACAA GATCTGCCCC ATGATTGGTT CCTTAGGAAC AAGAAATTTA : 36271389 *1 : AATTTCACAA GATCTGCCCC ATGATTGGTT CCTTAGGAAC AAGAAATTTA : *50 36271388 : CAAGTAGAAA TTATTCCTTT CAGAGTAACA TGCTGTATTA CTTCAATCCC : 36271339 *51 : CAAGTAGAAA TTATTCCTTT CAGAGTAACA TGCTGTATTA CTTCAATCCC : *100 36271338 : TATTTTTGTC TGTTCCATTT TCTTTGGATT CCCTATTCAC ATTGAATCCT : 36271289 *101 : TATTTTTGTC TGTTCCATTT TCTTTGGATT CCCTATTCAC ATTGAATCCT : *150 36271288 : TTTTGCCCTT CTGAAACAAT ATTCAGTCAC AAGTCATTTT GGTCATGTTG : 36271239 *151 : TTTTGCCCTT CTGAAACAAT ATTCAGTCAC AAGTCATTTT GGTCATGTTG : *200 36271238 : GTCTTTGTAA CAAATCAAAA TTACCTTATA TCCTTCTGGA CCTGGAGTAG : 36271189 *201 : GTCTTTGTAA CAAATCAAAA TTACCTTATA TCCTTCTGGA CCTGGAGTAG : *250 36271188 : TCTTTTAACG AACTTTCTTC TGGTAACCCG GAATATTTTT TAATCATAGA : 36271139 *251 : TCTTTTAACG AACTTTCTTC TGGTAACCCG GAATATTTTT TAATCATAGA : *300 36271138 : GCTTTAATCA AGTAGTATTG TTTTAATAGA GTTAATTGTA ATAAAAGATG : 36271089 *301 : GCTTTAATCA AGTAGTATTG TTTTAATAGA GTTAATTGTA ATAAAAGATG : *350 VARIANTS : C : VARIANTS 36271088 : AATGGTAATA ATGTGAAATG TATGCCTTGA TTCCAACAAG AATGTCAAGA : 36271039 *351 : AATGGTAATA ATGTGAAATG TATGCCTTGA TTCCAACAAG AATGTCAAGA : *400 36271038 : GCATAGAGAG AAGTTTTTGA AATACTACTA ATAAAATAGA GGCTGGGAGT : 36270989 *401 : GCATAGAGAG AAGTTTTTGA AATACTACTA ATAAAATAGA GGCTGGGAGT : *450 36270988 : AATGACTCAC ACCTATAATC CCAGCACTTT GGG : 36270956 *451 : AATGACTCAC ACCTATAATC CCAGCACTTT GGG : *483 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:58:36 RefSeq ID NM_000223.3 GI 156602658 Length 1992 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -24 AGTTGTGGCC ACCTTCCCCA GGCCATGGAT CTCTCCAACA ACACCATGTC 26 27 ACTCTCAGTG CGCACCCCCG GACTGTCCCG GCGGCTCTCC TCGCAGAGTG 76 77 TGATAGGCAG ACCCAGGGGC ATGTCTGCTT CCAGTGTTGG AAGTGGTTAT 126 127 GGGGGAAGTG CCTTTGGCTT TGGAGCCAGC TGTGGGGGAG GCTTTTCTGC 176 177 TGCTTCCATG TTTGGTTCTA GTTCCGGCTT TGGGGGTGGC TCCGGAAGTT 226 227 CCATGGCAGG AGGACTGGGT GCTGGTTATG GGAGAGCCCT GGGTGGAGGT 276 277 AGCTTTGGAG GGCTGGGGAT GGGATTTGGG GGCAGCCCAG GAGGTGGCTC 326 327 TCTAGGTATT CTCTCGGGCA ATGATGGAGG CCTTCTTTCT GGATCAGAAA 376 377 AAGAAACTAT GCAAAATCTT AATGATAGAT TAGCTTCCTA CCTGGATAAG 426 427 GTGCGAGCTC TAGAAGAGGC TAATACTGAG CTAGAAAATA AAATTCGAGA 476 477 ATGGTATGAA ACACGAGGAA CTGGGACTGC AGATGCTTCA CAGAGCGATT 526 527 ACAGCAAATA TTATCCACTG ATTGAAGACC TCAGGAATAA GATCATTTCA 576 577 GCCAGCATTG GAAATGCCCA GCTCCTCTTG CAGATTGACA ATGCGAGACT 626 627 AGCTGCTGAG GACTTCAGGA TGAAGTATGA GAATGAACTG GCCCTGCGCC 676 677 AGGGCGTAGA GGCCGACATC AATGGCCTGC GCCGGGTGCT GGACGAGCTG 726 727 ACCCTGACCA GGACCGACCT GGAGATGCAG ATCGAGAGCC TGAACGAGGA 776 777 GCTGGCCTAC ATGAAGAAGA ACCACGAGGA TGAGCTCCAA AGCTTCCGGG 826 827 TGGGCGGCCC AGGCGAGGTC AGCGTAGAAA TGGACGCTGC CCCCGGAGTG 876 877 GACCTCACCA GGCTCCTCAA TGATATGCGG GCGCAGTATG AAACCATCGC 926 927 TGAGCAGAAT CGGAAGGACG CTGAAGCCTG GTTCATTGAA AAGAGCGGGG 976 977 AGCTCCGTAA GGAGATTAGC ACCAACACCG AGCAGCTTCA GTCCAGCAAG 1026 1027 AGCGAGGTCA CCGACCTGCG TCGCGCCTTT CAGAACCTGG AGATCGAGCT 1076 1077 ACAGTCCCAG CTCGCCATGA AGAAATCCCT GGAGGACTCC TTGGCCGAAG 1126 1127 CCGAGGGCGA TTACTGCGCG CAGCTGTCCC AGGTGCAGCA GCTCATCAGC 1176 1177 AACCTGGAGG CACAGCTGCT CCAGGTGCGC GCGGACGCAG AGCGCCAGAA 1226 1227 CGTGGACCAC CAGCGGCTGC TGAATGTCAA GGCCCGCCTG GAGCTGGAGA 1276 1277 TTGAGACCTA CCGCCGCCTG CTGGACGGGG AGGCCCAAGG TGATGGTTTG 1326 1327 GAGGAAAGTT TATTTGTGAC AGACTCCAAA TCACAAGCAC AGTCAACTGA 1376 1377 TTCCTCTAAA GACCCAACCA AAACCCGAAA AATCAAGACA GTTGTGCAGG 1426 1427 AGATGGTGAA TGGTGAGGTG GTCTCATCTC AAGTTCAGGA AATTGAAGAA 1476 1477 CTAATGTAAA ATTTCACAAG ATCTGCCCCA TGATTGGTTC CTTAGGAACA *41 *42 AGAAATTTAC AAGTAGAAAT TATTCCTTTC AGAGTAACAT GCTGTATTAC *91 *92 TTCAATCCCT ATTTTTGTCT GTTCCATTTT CTTTGGATTC CCTATTCACA *141 *142 TTGAATCCTT TTTGCCCTTC TGAAACAATA TTCAGTCACA AGTCATTTTG *191 *192 GTCATGTTGG TCTTTGTAAC AAATCAAAAT TACCTTATAT CCTTCTGGAC *241 *242 CTGGAGTAGT CTTTTAACGA ACTTTCTTCT GGTAACCCGG AATATTTTTT *291 *292 AATCATAGAG CTTTAATCAA GTAGTATTGT TTTAATAGAG TTAATTGTAA *341 *342 TAAAAGATGA ATGGTAATAA TGTGAAATGT ATGCCTTGAT TCCAACAAGA *391 *392 ATGTCAAGAG CATAGAGAGA AGTTTTTGAA ATACTACTAA TAAAATAGAG *441 *442 GCTGGGAGTA ATGACTCACA CCTATAATCC CAGCACTTTG GG Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:58:36 RefSeq ID NP_000214.1 GI 4557699 Isoelectric Point 4.4175 Molecular Weight 53511.2 Daltons Length 494 amino acids Download File | Text Sequence 1 MDLSNNTMSL SVRTPGLSRR LSSQSVIGRP RGMSASSVGS GYGGSAFGFG 50 51 ASCGGGFSAA SMFGSSSGFG GGSGSSMAGG LGAGYGRALG GGSFGGLGMG 100 101 FGGSPGGGSL GILSGNDGGL LSGSEKETMQ NLNDRLASYL DKVRALEEAN 150 151 TELENKIREW YETRGTGTAD ASQSDYSKYY PLIEDLRNKI ISASIGNAQL 200 201 LLQIDNARLA AEDFRMKYEN ELALRQGVEA DINGLRRVLD ELTLTRTDLE 250 251 MQIESLNEEL AYMKKNHEDE LQSFRVGGPG EVSVEMDAAP GVDLTRLLND 300 301 MRAQYETIAE QNRKDAEAWF IEKSGELRKE ISTNTEQLQS SKSEVTDLRR 350 351 AFQNLEIELQ SQLAMKKSLE DSLAEAEGDY CAQLSQVQQL ISNLEAQLLQ 400 401 VRADAERQNV DHQRLLNVKA RLELEIETYR RLLDGEAQGD GLEESLFVTD 450 451 SKSQAQSTDS SKDPTKTRKI KTVVQEMVNG EVVSSQVQEI EELM Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 125 1A 126 160 L1 161 175 1B 176 276 L12 277 292 2A 293 311 L2 312 319 2B 320 440 Tail 441 494 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 188. Information last updated on 2007-08-17 12:20:51 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 428314 XM_425874.2 XP_425874.2 Vertebrates Pan troglodytes 468241 XM_001168372.1 XP_001168372.1 Primates Mus musculus 268482 NM_010661.2 NP_034791.1 Rodents Rattus norvegicus 360625 NM_001008761.1 NP_001008761.1 Rodents Vertebrate ClustalW multiple sequence alignments Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences. Type of ClustalW alignment Download in FASTA format View file in FASTA format Nucleotide file view Protein file view Back to top

ASSOCIATED DISEASES
Information last updated on 2009-01-06 15:23:33 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Corneal dystrophy, juvenile epithelial, of Meesmann; Meesmann Corneal Dystrophy MCD #122100 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 2009-01-06 15:23:33 * 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 8321 c.386T>C Substitution p.Met129Thr Substitution 1A MCD Corden et al, 2000 9097 c.386T>C Substitution p.Met129Thr Substitution 1A MCD Nichini et al, 2005 9524 c.389A>C Substitution p.Gln130Pro Substitution 1A MCD Corden et al, 2000 8324 c.399T>G Substitution p.Asn133Lys Substitution 1A MCD Irvine et al, 2002 8316 c.403A>G Substitution p.Arg135Gly Substitution 1A MCD Nishida et al, 1997 8315 c.404G>C Substitution p.Arg135Thr Substitution 1A MCD Irvine et al, 1997 8317 c.404G>T Substitution p.Arg135Ile Substitution 1A MCD Nishida et al, 1997 8322 c.404G>C Substitution p.Arg135Thr Substitution 1A MCD Corden et al, 2000 8962 c.405A>C Substitution p.Arg135Ser Substitution 1A MCD Yoon et al, 2004 8325 c.409G>C Substitution p.Ala137Pro Substitution 1A MCD Takahashi et al, 2002 8318 c.419T>G Substitution p.Leu140Arg Substitution 1A MCD Nishida et al, 1997 8314 c.427G>C Substitution p.Val143Leu Substitution 1A MCD Irvine et al, 1997 12603 c.427G>T Substitution p.Val143Leu Substitution 1A MCD Nielsen et al, 2008 9312 c.1197_1198ins27 Insertion p.Leu399_Gln400ins9 Insertion 2B MCD Yoon et al, 2004 8320 c.1276A>G Substitution p.Ile426Val Substitution 2B MCD Coleman et al, 1999 9098 c.1277T>G Substitution p.Ile426Ser Substitution 2B MCD Nichini et al, 2005 8319 c.1285T>G Substitution p.Tyr429Asp Substitution 2B MCD Nishida et al, 1997 9096 c.1286A>G Substitution p.Tyr429Cys Substitution 2B MCD Chen et al, 2005 12051 c.1289G>C Substitution p.Arg430Pro Substitution 2B MCD Sullivan et al, 2007 13227 c.1298T>G Substitution p.Leu433Arg Substitution 2B MCD Seto et al, 2008 Back to top

ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-01-16 15:51:50 * 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 13075 c.43C>T Substitution p.Pro15Ser Substitution Head Danish - Nielsen et al, 2008 13245 c.43C>T Substitution p.Pro15Ser Substitution Head Polish - Szaflik et al, 2008 13073 c.55C>T Substitution p.Arg19Trp Substitution Head Danish - Nielsen et al, 2008 13325 c.*360A>C Substitution p.= Silent Not affected Polish - Szaflik et al, 2008 Back to top