Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:02:48 * 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 51476159 : CCCTCTTCCT CTGACTCTCA GTGTCCCTGC TTAACTTACA CTCTTCTCTT : 51476110 -66 : CCCTCTTCCT CTGACTCTCA GTGTCCCTGC TTAACTTACA CTCTTCTCTT : -17 51476109 : CGCCAAGCTC CTTACCATGA GCAGACAAGC CAGCAAGACA TCTGGTGGCG : 51476060 -16 : CGCCAAGCTC CTTACCATGA GCAGACAAGC CAGCAAGACA TCTGGTGGCG : 34 1 : M S R Q A S K T S G G : 11 51476059 : GGAGCCAGGG TTTCTCCGGC CGCTCTGCTG TGGTCTCCGG CAGCAGCAGG : 51476010 35 : GGAGCCAGGG TTTCTCCGGC CGCTCTGCTG TGGTCTCCGG CAGCAGCAGG : 84 12 : G S Q G F S G R S A V V S G S S R : 28 51476009 : ATGAGCTGTG TGGCCCACTC TGGGGGAGCT GGCGGAGGGG CCTATGGCTT : 51475960 85 : ATGAGCTGTG TGGCCCACTC TGGGGGAGCT GGCGGAGGGG CCTATGGCTT : 134 29 : M S C V A H S G G A G G G A Y G F : 45 51475959 : CCGGAGCGGA GCAGGTGGCT TTGGCAGTCG CAGCCTCTAC AACCTGGGCG : 51475910 135 : CCGGAGCGGA GCAGGTGGCT TTGGCAGTCG CAGCCTCTAC AACCTGGGCG : 184 46 : R S G A G G F G S R S L Y N L G : 61 51475909 : GCAACAAGAG CATCTCCATC AGCGTGGCAG CTGGCGGCTC CCGGGCTGGA : 51475860 185 : GCAACAAGAG CATCTCCATC AGCGTGGCAG CTGGCGGCTC CCGGGCTGGA : 234 62 : G N K S I S I S V A A G G S R A G : 78 51475859 : GGCTTTGGGG GAGGGCGGAG CAGCTGTGCC TTTGCAGGTG GCTATGGAGG : 51475810 235 : GGCTTTGGGG GAGGGCGGAG CAGCTGTGCC TTTGCAGGTG GCTATGGAGG : 284 79 : G F G G G R S S C A F A G G Y G G : 95 51475809 : TGGCTTTGGG AGCGGCTATG GAGGTGGCTT TGGTGGTGGC TTTGGTGGTG : 51475760 285 : TGGCTTTGGG AGCGGCTATG GAGGTGGCTT TGGTGGTGGC TTTGGTGGTG : 334 96 : G F G S G Y G G G F G G G F G G : 111 51475759 : GCAGAGGAAT GGGAGGTGGC TTTGGTGGAG CTGGTGGCTT TGGAGGGGCT : 51475710 335 : GCAGAGGAAT GGGAGGTGGC TTTGGTGGAG CTGGTGGCTT TGGAGGGGCT : 384 112 : G R G M G G G F G G A G G F G G A : 128 51475709 : GGTGGCTTTG GAGGGGCTGG TGGCTTTGGT GGTCCTGGTG GCTTTGGTGG : 51475660 385 : GGTGGCTTTG GAGGGGCTGG TGGCTTTGGT GGTCCTGGTG GCTTTGGTGG : 434 129 : G G F G G A G G F G G P G G F G G : 145 51475659 : GTCTGGTGGC TTTGGTGGGC CTGGCAGCTT GGGCAGTCCT GGTGGCTTTG : 51475610 435 : GTCTGGTGGC TTTGGTGGGC CTGGCAGCTT GGGCAGTCCT GGTGGCTTTG : 484 146 : S G G F G G P G S L G S P G G F : 161 51475609 : GCCCTGGGGG CTTTCCTGGG GGAATTCAGG AAGTGACTAT CAACCAGAGT : 51475560 485 : GCCCTGGGGG CTTTCCTGGG GGAATTCAGG AAGTGACTAT CAACCAGAGT : 534 162 : G P G G F P G G I Q E V T I N Q S : 178 51475559 : CTCCTGCAGC CCCTCAATGT GGAGATCGAC CCCCAGATTG GGCAAGTAAA : 51475510 535 : CTCCTGCAGC CCCTCAATGT GGAGATCGAC CCCCAGATTG GGCAAGTAAA : 584 179 : L L Q P L N V E I D P Q I G Q V K : 195 51475509 : GGCCCAGGAG CGGGAACAGA TCAAGACCCT CAACAACAAG TTTGCCTCCT : 51475460 585 : GGCCCAGGAG CGGGAACAGA TCAAGACCCT CAACAACAAG TTTGCCTCCT : 634 196 : A Q E R E Q I K T L N N K F A S : 211 51475459 : TCATTGACAA GGTAATGAAG CTTTGACTGG TCATCCCTTC CTGGGCTGGG : 51475410 635 : TCATTGACAA G : 645 212 : F I D K : 215 51475409 : GACTTTGAAT TTGACCTTTG GGACACAGTG TTTAAATGTT TCTTGGATAG : 51475360 51475359 : GCCAGACTGG AGGGTGAGGA GTTAGGTGGA ACTCTAGGGT CTGGGAAGAT : 51475310 51475309 : ATCCAGGGTT GAGGAGTTTG TCTACATGGT CAAGTGAGGG GAGGTGTAGA : 51475260 51475259 : AAGAAAACAG TCCCCTATTT GGACCTGAGC ACCACACATC CTGTTTGTGG : 51475210 51475209 : GAACCCCTGC TGAAGTTTCC AGTCATTGCC TCATTGAGGC CCAGGCTGGC : 51475160 51475159 : AGGGCAGGCA GCCCAAGGCA AGGGCCACAG CCACCATCAG CGAAGGGTCC : 51475110 51475109 : ACCAAGAATG GGAGGCTTTT CAAATACAAG CTGCCCTCTG AGGCTTTCCA : 51475060 51475059 : GGAAGCCCTT TCCCCCTCAT ATTGCTGTGC CAGGCAGAGG AGGCTGATTA : 51475010 51475009 : CCTGGAGCAG GGATTAAGAG CATAAGAACC TTAGTTAGTC CCAAGGGAGC : 51474960 51474959 : GCAGAGAAAT GAGTGACTTT GCACTCCTAC TCAGCCTAGT CAGGAAGACA : 51474910 51474909 : AGAGTGCTCG GTGAGCTTCT CCAGACCAGG ACAGTTCTCA TGGGGCTGCC : 51474860 51474859 : TCCCCTCCAG GCCCAAGAGA GGTGTTGTCA TGCTAACTGT GGCATGCCAG : 51474810 51474809 : CCAGTGTTGC TTCCCAGCTT CCCAGCATCA CTTCACTGTT TTTGAAGAGC : 51474760 51474759 : TAGCATGTCA GTAGAGTCGT GGGTGGAAAT GGTGCTGCTG AGGTTTATGT : 51474710 51474709 : GCATTTTTGT AGAGTGTACT GTGGTTTTGG AAGTTAAGAT AGGGTCATGA : 51474660 51474659 : AGTTCCCAGG AACAACAAGC AATAATTCTA TTGCTTTCAG GTAGGAGCTA : 51474610 51474609 : CTTCCCCTTC CTTTGTAACT TTCCAAACCA CGCTGCAAGT GTAGTGTCCT : 51474560 51474559 : GACTCATCAC CCATCTGATC ATAATCTCTC TGACTACAGT AGGAGCCTAT : 51474510 51474509 : CTTTGCATCT TTTCTAGGCC TTTGTGCTGG GGGCCCAGGA GATAGACACC : 51474460 51474459 : TAGTCCTACC TGAGTGAAGG CCCCTCTGCT CCTCTGCTAC AAGTGTTGCC : 51474410 51474409 : TGATGTTGCT TCCTGCAACC ATTGCAGGTG CGGTTCCTGG AGCAACAGAA : 51474360 646 : GTG CGGTTCCTGG AGCAACAGAA : 668 216 : V R F L E Q Q N : 223 51474359 : CAAAGTCCTG GAGACCAAGT GGAACCTGCT CCAGCAGCAG GGCACAAGTT : 51474310 669 : CAAAGTCCTG GAGACCAAGT GGAACCTGCT CCAGCAGCAG GGCACAAGTT : 718 224 : K V L E T K W N L L Q Q Q G T S : 239 51474309 : CCATCTCAGG CACAAACAAC CTTGAGCCTC TTTTTGAGAA TCACATCAAC : 51474260 719 : CCATCTCAGG CACAAACAAC CTTGAGCCTC TTTTTGAGAA TCACATCAAC : 768 240 : S I S G T N N L E P L F E N H I N : 256 51474259 : TACCTGCGGA GCTACCTGGA CAACATCCTC GGGGAGAGAG GGCGCCTGGA : 51474210 769 : TACCTGCGGA GCTACCTGGA CAACATCCTC GGGGAGAGAG GGCGCCTGGA : 818 257 : Y L R S Y L D N I L G E R G R L D : 273 51474209 : CTCTGAGCTG AAGAACATGG AGGACCTGGT GGAAGACTTC AAGAAGAAGT : 51474160 819 : CTCTGAGCTG AAGAACATGG AGGACCTGGT GGAAGACTTC AAGAAGAA : 866 274 : S E L K N M E D L V E D F K K K : 289 51474159 : GAGTGACAGG GCAGGAGTGG GAAGATGCCA TGGCCCACCC TGTCTCAGAG : 51474110 51474109 : TCTTGGCCCC TTCTACATGC CCCCTGACTG CTGGGCAGTG GCGTCTCCTG : 51474060 51474059 : GCCCATTTCC CTCTCCTTAC CTTCATGAAG GACAGCTTGG TTCATTCAGT : 51474010 51474009 : TCCCCCTCAC CTTCCTTCTC CAAGCATGGT GCTTTGCAAA TAAAATTGTG : 51473960 51473959 : GCAAGAGGAT GAGTTTAGGC TGGGCTTGGT GGCTCATGCC TGTAATCCCA : 51473910 51473909 : GCACTTTGGG AGGCCGAGGT GGACAGATCA TTTGAGGTCA GGAGTTCAAG : 51473860 51473859 : ACCAGCCTGG CCAACATGGC GAAATATCAT CTCTACTAAA AATACAAAAA : 51473810 51473809 : TTAGCTGGGT GTGGTGGCAC ACACCTGTAA TCCAAGATAG TCGGGTGGCT : 51473760 51473759 : GAGGAAACAG AATTTCTTGA ACCCTGGAAA TGGAGGTTGC AGTGAGTCAA : 51473710 51473709 : GATTGTACCA CTGCACTCCA GCCTCGGTGA CAGAGCGAGA CTATGTCTAA : 51473660 51473659 : AAAAAAAACA AAAACAAAAA ACGGATGAGT TTAGAGTTGG GGAAGCATTT : 51473610 51473609 : CCTCATGAGC CAGGTTGGGG AAGATCCTGG TTCTGGCATG TGAAAGATTC : 51473560 51473559 : TGGGACAACT CATGGTATGG TGATCAACCA TCCAGAGGTT TGCCTGGGAC : 51473510 51473509 : TGAGGGGTTT CCTGGGATGC AGAAATTTTA GTGCTAAAAC CAGACAGTTT : 51473460 51473459 : GCCTGGGCAA ATTGACTTGG TTGGTCCCCC AACTAACAGG GAGATAGTAA : 51473410 51473409 : AGAGGATGTG CTCATCTGAG AGGGGCAGGA TAGGGATGGA GGGAGGGAAG : 51473360 51473359 : AGATGAACTT TCAGAGTTCC AGGGAACAAT GGTGTTTACG ATGACCTCAA : 51473310 51473309 : AACCAAACTC AGCTGTTTCT TTTTTATTCA CACAGATATG AGGATGAAAT : 51473260 867 : ATATG AGGATGAAAT : 881 290 : Y E D E I : 294 51473259 : CAATAAACGT ACAGCTGCTG AGAATGAATT TGTGACTCTG AAGAAGGTAA : 51473210 882 : CAATAAACGT ACAGCTGCTG AGAATGAATT TGTGACTCTG AAGAAG : 927 295 : N K R T A A E N E F V T L K K : 309 51473209 : GGGCTGTGTG TGAGGTTTCT GAGGCTTGCA GCTGCAGGTT TCTGGCTGGG : 51473160 51473159 : TTGGGGGAAT CTCCTCACTC CACTGCCACA GAGCTGCCAA GTTCAGGCCT : 51473110 51473109 : TTGGAGCAAT AAACAGAAGT CAGGTGCACC TTAGTCTGGA AGATCCCTAA : 51473060 51473059 : AAGAGTTAGT TCATCAGTCT TTAGTTTTTT AGTAGGATTA AACTTAGACC : 51473010 51473009 : ATCCTAATGA GATACAAATT GCCCGTTCAA GTGGAGACTG GTCTTAGACA : 51472960 51472959 : AGGACCATCA CTGCACCAGT CCCCTCTGCT CTTTCTTGCT GCAGTTGTGG : 51472910 51472909 : TTTGCTGTTT GTTCATTGGG AGAATAAGGC CTTTATCTTC CTCTTTTCTC : 51472860 51472859 : AGGATGTGGA CAGTGCCTAT ATGAACAAGG TGGAGCTTCA GGCCAAAGTG : 51472810 928 : GATGTGGA CAGTGCCTAT ATGAACAAGG TGGAGCTTCA GGCCAAAGTG : 975 310 : D V D S A Y M N K V E L Q A K V : 325 51472809 : GATGCCTTGA TAGATGAGAT CGACTTCTTA AGGACCCTCT ACGACGCTGT : 51472760 976 : GATGCCTTGA TAGATGAGAT CGACTTCTTA AGGACCCTCT ACGACGCT : 1023 326 : D A L I D E I D F L R T L Y D A : 341 51472759 : AAGGATGTTA CCTACTAAGA AGGGACAGAG GGAGAGTGAG GTGTTTCCAG : 51472710 51472709 : ATTTGAGGCT GGTGCATTTT GGTATATAGG CCCCAGAAGA CATCTGGAAT : 51472660 51472659 : GAGCCTGGAG ATGAGGACCC TTGGAAGGGA TTCCACAGGA TAAGCTGCAG : 51472610 51472609 : ACATGGGGTT CTCTGAGTGG CTGCGGACAG GGTGTGGCTG ATACACATGT : 51472560 51472559 : GGAGCAAGGA ATCAGTGAAT GAGACTGTTG ATCAAGAGTC TTTCAGGGCC : 51472510 51472509 : CTGTGTGCTT GTTACAGGGA CCCCAAAAGT GAACAAGCTC CCTCTGTGTT : 51472460 51472459 : GACAGGAGCT ATCTCAGATG CAGAGCCACA TCAGTGACAC ATCTGTGGTG : 51472410 1024 : GAGCT ATCTCAGATG CAGAGCCACA TCAGTGACAC ATCTGTGGTG : 1068 342 : E L S Q M Q S H I S D T S V V : 356 51472409 : CTGTCCATGG ACAATAATCG CTCCCTGGAC CTGGACAGCA TCATTGCTGA : 51472360 1069 : CTGTCCATGG ACAATAATCG CTCCCTGGAC CTGGACAGCA TCATTGCTGA : 1118 357 : L S M D N N R S L D L D S I I A E : 373 51472359 : AGTTCGTGCA CAGTATGAGG ATATCGCTCA GAGAAGCAAG GCCGAAGCTG : 51472310 1119 : AGTTCGTGCA CAGTATGAGG ATATCGCTCA GAGAAGCAAG GCCGAAGCTG : 1168 374 : V R A Q Y E D I A Q R S K A E A : 389 51472309 : AGGCCCTGTA CCAGACCAAG GTGGGTGCTA GTCACCTCTT ACGGGATCCA : 51472260 1169 : AGGCCCTGTA CCAGACCAAG : 1188 390 : E A L Y Q T K : 396 51472259 : CTGGAGGTTT CAGAGAGGCC ATGGCCTATT GGACAGCTGG GTAGTGAGTT : 51472210 51472209 : CCCAGTGGTC ACTGGGTGAA TGCCTTTTGG TTTTACCCTC TGAAGTCATC : 51472160 51472159 : CTTCTAATGG TGGTTCAGTT GCAGAAAGTC TTGCCCCTGG GGGAGATGGT : 51472110 51472109 : TGCCTGCTAT GTGGGACTGA CTCCAACTTG CTCAGGAACT ACAGGGTAGG : 51472060 51472059 : AAAATCTTCT ACCACAACAA CCCAGATGTT CTCTTTCCTG CTGCCTTGGG : 51472010 51472009 : GGTTTCCCTG CTGAAACACA ATGCAGTATC ATTTTAGCAA ATGCCTTACT : 51471960 51471959 : GAGCTTCTGA AGGTTTGGTG GGTGATGTTG GAGGTGTAGA AACAAGTCAA : 51471910 51471909 : GCAAAGCTGC AGGAATACCC CATCTTCCCT TCTGTTCTGC AGTTGGGGGA : 51471860 1189 : TTGGGGGA : 1196 397 : L G E : 399 51471859 : GCTGCAGACC ACGGCTGGCA GGCATGGGGA TGACCTAAGA AATACCAAGA : 51471810 1197 : GCTGCAGACC ACGGCTGGCA GGCATGGGGA TGACCTAAGA AATACCAAGA : 1246 400 : L Q T T A G R H G D D L R N T K : 415 51471809 : GCGAGATCAT AGAGCTCAAC AGAATGATCC AGAGGCTGCG GGCAGAGATC : 51471760 1247 : GCGAGATCAT AGAGCTCAAC AGAATGATCC AGAGGCTGCG GGCAGAGATC : 1296 416 : S E I I E L N R M I Q R L R A E I : 432 51471759 : GAGGGTGTCA AGAAGCAGGT GGGATGGTCA TGGATGCTGG CACCTGGGAT : 51471710 1297 : GAGGGTGTCA AGAAGCAG : 1314 433 : E G V K K Q : 438 51471709 : GATTGCTGAG GGGCAGGGGC TAGGATCTCA GGACTCCTCC CCTGGAATAG : 51471660 51471659 : ACGTCTGGAG GTCATCTCAG GCTGGCTGAC CCACAGGGCA GTATCTCCAC : 51471610 51471609 : AAATGGAGAC AAGATGGAGG CACTAGGGGA GGAGGAATGT TCCCTGACTT : 51471560 51471559 : TAAGATGGGA TAATCCATTG CATGTCAGGA AGGGCCTGGG GCCCTCTTAC : 51471510 51471509 : TGAGCTCATT CCTCCTACCT CCCTTGCCCC AGAATGCCAA CCTGCAGACG : 51471460 1315 : AATGCCAA CCTGCAGACG : 1332 439 : N A N L Q T : 444 51471459 : GCCATTGCCG AGGCCGAGCA GCATGGAGAG ATGGCCCTCA AGGATGCCAA : 51471410 1333 : GCCATTGCCG AGGCCGAGCA GCATGGAGAG ATGGCCCTCA AGGATGCCAA : 1382 445 : A I A E A E Q H G E M A L K D A N : 461 51471409 : TGCCAAGCTC CAAGAGCTGC AGGCTGCTCT ACAGCAGGCG AAGGATGACC : 51471360 1383 : TGCCAAGCTC CAAGAGCTGC AGGCTGCTCT ACAGCAGGCG AAGGATGACC : 1432 462 : A K L Q E L Q A A L Q Q A K D D : 477 51471359 : TGGCGCGGCT GCTACGTGAC TACCAGGAGC TGATGAATGT CAAGCTGGCC : 51471310 1433 : TGGCGCGGCT GCTACGTGAC TACCAGGAGC TGATGAATGT CAAGCTGGCC : 1482 478 : L A R L L R D Y Q E L M N V K L A : 494 VARIANTS : T C A : VARIANTS 51471309 : CTGGACGTGG AGATCGCCAC CTACCGCAAG CTGCTGGAGG GCGAGGAGTA : 51471260 1483 : CTGGACGTGG AGATCGCCAC CTACCGCAAG CTGCTGGAGG GCGAGGAGTA : 1532 495 : L D V E I A T Y R K L L E G E E Y : 511 VARIANTS : V P K : VARIANTS 51471259 : CAGGTGAGCC TCCAGTCCCG TCTTCCCACA CCCCCTGGCT CAAGTCATAG : 51471210 1533 : CAG : 1535 512 : R : 512 51471209 : GCCAAGGGCC AGATAAGTGA CCAAGTAACT GGGGATGGAG CCCTGCTGTA : 51471160 51471159 : TAAAGAGAGG CCTTGTGGTG AAGCATTTGC CTCTACCAGC CCACTCCCTC : 51471110 51471109 : CCAGGGCACG TATGCAACCA GTGCCCACAG GCTCTCCTTG CTACAGCCCA : 51471060 51471059 : AAGAGGGGTG GAGAAAGCTT ACCTGATTTG CCAGGCTTCT CTGTTCAGCT : 51471010 51471009 : CTGGTTGCTA TTCATGCCCT TGGTCCGTGG ACTTGTTGGT GATGTGCTTT : 51470960 51470959 : GTGACGGGGC CCACTTTCTC TTGCTTTCTC AAACAGGATG TCTGGAGAGT : 51470910 1536 : GATG TCTGGAGAGT : 1549 513 : M S G E : 516 51470909 : GTCCGAGTGC TGTCAGCATC TGTAAGTACC GAAAGTAGCT AAGAAAATGA : 51470860 1550 : GTCCGAGTGC TGTCAGCATC T : 1570 517 : C P S A V S I : 523 51470859 : GAGTTAATTC TGAAATATCT GCACTAATCC AGGGTAGTAG CAACTAATTT : 51470810 51470809 : AAACATATTT TTACGGAAGT TGGAGGGGTT TTCTGGGAGA GGAGAGGGAA : 51470760 51470759 : GTGATTGGCT TTTGTAATTG TTCTGGGTTC AGGGCACTTT TAATAGGCTT : 51470710 51470709 : CGACGGCCAA TGTGGAATAT CCAACAGGGG GCCTCTTGAT AGGAGGATAA : 51470660 51470659 : ATTCAGACGC TAGATCCCCT CCAAGGGGGT CATCAAGACT GTACTGTGGG : 51470610 51470609 : AGGAACCACT GGCTAATTCA TAATGGCTTA ACGGCAGGGG AGTGAGTAGC : 51470560 51470559 : TAGTGGCCTT GGAACGGCTC GTGGTGAACA TCCTGTGCAA AGCTGCCTTG : 51470510 51470509 : ATCAGCTCTG GATAGTCGTG GGCCCGGTGG ATCATTGACA ATAACATAGC : 51470460 51470459 : AGCTGGCCTG GGCGCCGTCG CTGATCGCTG TCCTGTCCTC TCCCCCACAG : 51470410 51470409 : CCGTGGTCAG CAGCAGCACG ACTTCCGCCT CCGCAGGTGG CTATGGAGGA : 51470360 1571 : CCGTGGTCAG CAGCAGCACG ACTTCCGCCT CCGCAGGTGG CTATGGAGGA : 1620 524 : S V V S S S T T S A S A G G Y G G : 540 51470359 : GGTTACGGCG GAGGCATGGG CGGTGGTTTA GGAGGTGGCT TCAGTGCGGG : 51470310 1621 : GGTTACGGCG GAGGCATGGG CGGTGGTTTA GGAGGTGGCT TCAGTGCGGG : 1670 541 : G Y G G G M G G G L G G G F S A G : 557 51470309 : CGGCGGCTCA GGCAGTGGCT TTGGCCGGGG AGGCGGCGGT GGAATCGGCG : 51470260 1671 : CGGCGGCTCA GGCAGTGGCT TTGGCCGGGG AGGCGGCGGT GGAATCGGCG : 1720 558 : G G S G S G F G R G G G G G I G : 573 51470259 : GTGGATTTGG CGGCGGCAGC AGCGGTTTCA GCGGTGGCAG CGGCTTTGGC : 51470210 1721 : GTGGATTTGG CGGCGGCAGC AGCGGTTTCA GCGGTGGCAG CGGCTTTGGC : 1770 574 : G G F G G G S S G F S G G S G F G : 590 51470209 : TCCATCTCTG GCGCCCGCTA TGGAGTCAGT GGCGGGGGCT TCAGCTCGGC : 51470160 1771 : TCCATCTCTG GCGCCCGCTA TGGAGTCAGT GGCGGGGGCT TCAGCTCGGC : 1820 591 : S I S G A R Y G V S G G G F S S A : 607 51470159 : CAGCAACCGG GGCGGCAGCA TCAAGTTCTC CCAGTCCTCC CAGTCCTCCC : 51470110 1821 : CAGCAACCGG GGCGGCAGCA TCAAGTTCTC CCAGTCCTCC CAGTCCTCCC : 1870 608 : S N R G G S I K F S Q S S Q S S : 623 51470109 : AGCGCTACTC CAGATAAAGA GCACGCATCA GCATCGCAGC CACTCCAGCG : 51470060 1871 : AGCGCTACTC CAGATAAAGA GCACGCATCA GCATCGCAGC CACTCCAGCG : *33 624 : Q R Y S R : 628 51470059 : CCTCCCCTCC GCTCCCCACG CCCCCATATT GGCAACACCC CCAGCGCCAC : 51470010 *34 : CCTCCCCTCC GCTCCCCACG CCCCCATATT GGCAACACCC CCAGCGCCAC : *83 51470009 : CCCATGCTCC CCAAGAACGC GGCTCTGCGC TGGAAGGCTT GTGGCCTCTT : 51469960 *84 : CCCATGCTCC CCAAGAACGC GGCTCTGCGC TGGAAGGCTT GTGGCCTCTT : *133 51469959 : GCTCCTCCTT CCAGATCCCC GGCCAAGCCC AGTCACGAGA ATTTCAGGCT : 51469910 *134 : GCTCCTCCTT CCAGATCCCC GGCCAAGCCC AGTCACGAGA ATTTCAGGCT : *183 51469909 : CTTCTCTCCG GCTCCAGCCT GTGCCTGTGA TTGTCCAGGT GTGGCCTAGG : 51469860 *184 : CTTCTCTCCG GCTCCAGCCT GTGCCTGTGA TTGTCCAGGT GTGGCCTAGG : *233 51469859 : CCGCCACCTT CTGCTGCCCC GGAGTCCCCT CCCTGGGTGG GATGCTCACT : 51469810 *234 : CCGCCACCTT CTGCTGCCCC GGAGTCCCCT CCCTGGGTGG GATGCTCACT : *283 51469809 : ACAGCTCTGA TGTATATAGC ACACAGCCCC CTCCGCCCCT CCGGTCTGTC : 51469760 *284 : ACAGCTCTGA TGTATATAGC ACACAGCCCC CTCCGCCCCT CCGGTCTGTC : *333 51469759 : GCCAATAAAG TGCACTGTGT TTCA------ ---------- - : 51469736 *334 : GCCAATAAAG TGCACTGTGT TTCAAAAAAA AAAAAAAAAA A : *374 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:02:48 RefSeq ID NM_057088.2 GI 109148551 Length 2327 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -66 CCCTCTTCCT CTGACTCTCA GTGTCCCTGC TTAACTTACA CTCTTCTCTT -17 -16 CGCCAAGCTC CTTACCATGA GCAGACAAGC CAGCAAGACA TCTGGTGGCG 34 35 GGAGCCAGGG TTTCTCCGGC CGCTCTGCTG TGGTCTCCGG CAGCAGCAGG 84 85 ATGAGCTGTG TGGCCCACTC TGGGGGAGCT GGCGGAGGGG CCTATGGCTT 134 135 CCGGAGCGGA GCAGGTGGCT TTGGCAGTCG CAGCCTCTAC AACCTGGGCG 184 185 GCAACAAGAG CATCTCCATC AGCGTGGCAG CTGGCGGCTC CCGGGCTGGA 234 235 GGCTTTGGGG GAGGGCGGAG CAGCTGTGCC TTTGCAGGTG GCTATGGAGG 284 285 TGGCTTTGGG AGCGGCTATG GAGGTGGCTT TGGTGGTGGC TTTGGTGGTG 334 335 GCAGAGGAAT GGGAGGTGGC TTTGGTGGAG CTGGTGGCTT TGGAGGGGCT 384 385 GGTGGCTTTG GAGGGGCTGG TGGCTTTGGT GGTCCTGGTG GCTTTGGTGG 434 435 GTCTGGTGGC TTTGGTGGGC CTGGCAGCTT GGGCAGTCCT GGTGGCTTTG 484 485 GCCCTGGGGG CTTTCCTGGG GGAATTCAGG AAGTGACTAT CAACCAGAGT 534 535 CTCCTGCAGC CCCTCAATGT GGAGATCGAC CCCCAGATTG GGCAAGTAAA 584 585 GGCCCAGGAG CGGGAACAGA TCAAGACCCT CAACAACAAG TTTGCCTCCT 634 635 TCATTGACAA GGTGCGGTTC CTGGAGCAAC AGAACAAAGT CCTGGAGACC 684 685 AAGTGGAACC TGCTCCAGCA GCAGGGCACA AGTTCCATCT CAGGCACAAA 734 735 CAACCTTGAG CCTCTTTTTG AGAATCACAT CAACTACCTG CGGAGCTACC 784 785 TGGACAACAT CCTCGGGGAG AGAGGGCGCC TGGACTCTGA GCTGAAGAAC 834 835 ATGGAGGACC TGGTGGAAGA CTTCAAGAAG AAATATGAGG ATGAAATCAA 884 885 TAAACGTACA GCTGCTGAGA ATGAATTTGT GACTCTGAAG AAGGATGTGG 934 935 ACAGTGCCTA TATGAACAAG GTGGAGCTTC AGGCCAAAGT GGATGCCTTG 984 985 ATAGATGAGA TCGACTTCTT AAGGACCCTC TACGACGCTG AGCTATCTCA 1034 1035 GATGCAGAGC CACATCAGTG ACACATCTGT GGTGCTGTCC ATGGACAATA 1084 1085 ATCGCTCCCT GGACCTGGAC AGCATCATTG CTGAAGTTCG TGCACAGTAT 1134 1135 GAGGATATCG CTCAGAGAAG CAAGGCCGAA GCTGAGGCCC TGTACCAGAC 1184 1185 CAAGTTGGGG GAGCTGCAGA CCACGGCTGG CAGGCATGGG GATGACCTAA 1234 1235 GAAATACCAA GAGCGAGATC ATAGAGCTCA ACAGAATGAT CCAGAGGCTG 1284 1285 CGGGCAGAGA TCGAGGGTGT CAAGAAGCAG AATGCCAACC TGCAGACGGC 1334 1335 CATTGCCGAG GCCGAGCAGC ATGGAGAGAT GGCCCTCAAG GATGCCAATG 1384 1385 CCAAGCTCCA AGAGCTGCAG GCTGCTCTAC AGCAGGCGAA GGATGACCTG 1434 1435 GCGCGGCTGC TACGTGACTA CCAGGAGCTG ATGAATGTCA AGCTGGCCCT 1484 1485 GGACGTGGAG ATCGCCACCT ACCGCAAGCT GCTGGAGGGC GAGGAGTACA 1534 1535 GGATGTCTGG AGAGTGTCCG AGTGCTGTCA GCATCTCCGT GGTCAGCAGC 1584 1585 AGCACGACTT CCGCCTCCGC AGGTGGCTAT GGAGGAGGTT ACGGCGGAGG 1634 1635 CATGGGCGGT GGTTTAGGAG GTGGCTTCAG TGCGGGCGGC GGCTCAGGCA 1684 1685 GTGGCTTTGG CCGGGGAGGC GGCGGTGGAA TCGGCGGTGG ATTTGGCGGC 1734 1735 GGCAGCAGCG GTTTCAGCGG TGGCAGCGGC TTTGGCTCCA TCTCTGGCGC 1784 1785 CCGCTATGGA GTCAGTGGCG GGGGCTTCAG CTCGGCCAGC AACCGGGGCG 1834 1835 GCAGCATCAA GTTCTCCCAG TCCTCCCAGT CCTCCCAGCG CTACTCCAGA 1884 1885 TAAAGAGCAC GCATCAGCAT CGCAGCCACT CCAGCGCCTC CCCTCCGCTC *47 *48 CCCACGCCCC CATATTGGCA ACACCCCCAG CGCCACCCCA TGCTCCCCAA *97 *98 GAACGCGGCT CTGCGCTGGA AGGCTTGTGG CCTCTTGCTC CTCCTTCCAG *147 *148 ATCCCCGGCC AAGCCCAGTC ACGAGAATTT CAGGCTCTTC TCTCCGGCTC *197 *198 CAGCCTGTGC CTGTGATTGT CCAGGTGTGG CCTAGGCCGC CACCTTCTGC *247 *248 TGCCCCGGAG TCCCCTCCCT GGGTGGGATG CTCACTACAG CTCTGATGTA *297 *298 TATAGCACAC AGCCCCCTCC GCCCCTCCGG TCTGTCGCCA ATAAAGTGCA *347 *348 CTGTGTTTCA AAAAAAAAAA AAAAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:02:48 RefSeq ID NP_476429.2 GI 109148552 Isoelectric Point 6.6995 Molecular Weight 64447.9 Daltons Length 628 amino acids Download File | Text Sequence 1 MSRQASKTSG GGSQGFSGRS AVVSGSSRMS CVAHSGGAGG GAYGFRSGAG 50 51 GFGSRSLYNL GGNKSISISV AAGGSRAGGF GGGRSSCAFA GGYGGGFGSG 100 101 YGGGFGGGFG GGRGMGGGFG GAGGFGGAGG FGGAGGFGGP GGFGGSGGFG 150 151 GPGSLGSPGG FGPGGFPGGI QEVTINQSLL QPLNVEIDPQ IGQVKAQERE 200 201 QIKTLNNKFA SFIDKVRFLE QQNKVLETKW NLLQQQGTSS ISGTNNLEPL 250 251 FENHINYLRS YLDNILGERG RLDSELKNME DLVEDFKKKY EDEINKRTAA 300 301 ENEFVTLKKD VDSAYMNKVE LQAKVDALID EIDFLRTLYD AELSQMQSHI 350 351 SDTSVVLSMD NNRSLDLDSI IAEVRAQYED IAQRSKAEAE ALYQTKLGEL 400 401 QTTAGRHGDD LRNTKSEIIE LNRMIQRLRA EIEGVKKQNA NLQTAIAEAE 450 451 QHGEMALKDA NAKLQELQAA LQQAKDDLAR LLRDYQELMN VKLALDVEIA 500 501 TYRKLLEGEE YRMSGECPSA VSISVVSSST TSASAGGYGG GYGGGMGGGL 550 551 GGGFSAGGGS GSGFGRGGGG GIGGGFGGGS SGFSGGSGFG SISGARYGVS 600 601 GGGFSSASNR GGSIKFSQSS QSSQRYSR Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 198 1A 199 233 L1 234 247 1B 248 348 L12 349 365 2A 366 384 L2 385 392 2B 393 513 Tail 514 628 Back to top

MONOCLONAL ANTIBODIES
Information last updated on 2007-12-07 13:52:39 Clone Name Species Reported Specificity Epitope Reference AE5 mouse K3 - Cooper and Sun, 1986, Juhl et al, 1989 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 62202. Information last updated on 2007-08-17 12:24:15 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Caenorhabditis elegans 178747 NM_071382.4 NP_503783.1 Invertebrates Pan troglodytes 466998 XM_522398.2 XP_522398.2 Primates 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 2009-01-07 12:37:17 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 2009-01-07 12:37:17 * 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 13237 c.1493A>T Substitution p.Glu498Val Substitution 2B MCD Szaflik et al, 2008 9121 c.1508G>C Substitution p.Arg503Pro Substitution 2B MCD Chen et al, 2005 8737 c.1525G>A Substitution p.Glu509Lys Substitution 2B MCD Irvine et al, 1997 Back to top