Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:01:19 * 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 47975176 : CCTCGCAGCG GTCTGCGGCT CCTTCCCAGC CCCCGGCCTA GCTCTGCGAA : 47975225 -75 : CCTCGCAGCG GTCTGCGGCT CCTTCCCAGC CCCCGGCCTA GCTCTGCGAA : -26 VARIANTS : C : VARIANTS 47975226 : CGGTGACTGC CCATCCTTGG CCGCAATGAG CCACCACCCG TCGGGCCTCC : 47975275 -25 : CGGTGACTGC CCATCCTTGG CCGCAATGAG CCACCACCCG TCGGGCCTCC : 25 1 : M S H H P S G L : 8 VARIANTS : A T : VARIANTS 47975276 : GGGCCGGCTT CAGCTCCACC TCATACCGCC GTACCTTCGG TCCACCGCCC : 47975325 26 : GGGCCGGCTT CAGCTCCACC TCATACCGCC GTACCTTCGG TCCACCGCCC : 75 9 : R A G F S S T S Y R R T F G P P P : 25 VARIANTS : Q : VARIANTS 47975326 : TCACTATCCC CCGGGGCCTT CTCCTACTCG TCCAGCTCCC GCTTCTCCAG : 47975375 76 : TCACTATCCC CCGGGGCCTT CTCCTACTCG TCCAGCTCCC GCTTCTCCAG : 125 26 : S L S P G A F S Y S S S S R F S S : 42 47975376 : CAGCCGCCTG CTGGGCTCCG CGTCCCCGAG CTCCTCGGTG CGCCTGGGCA : 47975425 126 : CAGCCGCCTG CTGGGCTCCG CGTCCCCGAG CTCCTCGGTG CGCCTGGGCA : 175 43 : S R L L G S A S P S S S V R L G : 58 47975426 : GCTTCCGTAG CCCCCGAGCG GGAGCGGGCG CCCTCCTGCG CCTGCCCTCG : 47975475 176 : GCTTCCGTAG CCCCCGAGCG GGAGCGGGCG CCCTCCTGCG CCTGCCCTCG : 225 59 : S F R S P R A G A G A L L R L P S : 75 VARIANTS : d : VARIANTS 47975476 : GAGCGCCTCG ACTTCTCCAT GGCCGAGGCC CTCAACCAGG AGTTCCTGGC : 47975525 226 : GAGCGCCTCG ACTTCTCCAT GGCCGAGGCC CTCAACCAGG AGTTCCTGGC : 275 76 : E R L D F S M A E A L N Q E F L A : 92 VARIANTS : f : VARIANTS 47975526 : CACGCGCAGC AACGAGAAGC AGGAGCTGCA GGAGCTCAAC GACCGCTTCG : 47975575 276 : CACGCGCAGC AACGAGAAGC AGGAGCTGCA GGAGCTCAAC GACCGCTTCG : 325 93 : T R S N E K Q E L Q E L N D R F : 108 47975576 : CCAACTTCAT CGAGAAGGTA CGCTTTCTGG AGCAGCAGAA CGCGGCCCTG : 47975625 326 : CCAACTTCAT CGAGAAGGTA CGCTTTCTGG AGCAGCAGAA CGCGGCCCTG : 375 109 : A N F I E K V R F L E Q Q N A A L : 125 VARIANTS : T : VARIANTS 47975626 : CGCGGGGAGC TGAGCCAAGC CCGGGGCCAG GAGCCGGCGC GCGCCGACCA : 47975675 376 : CGCGGGGAGC TGAGCCAAGC CCGGGGCCAG GAGCCGGCGC GCGCCGACCA : 425 126 : R G E L S Q A R G Q E P A R A D Q : 142 VARIANTS : Y : VARIANTS 47975676 : GCTGTGCCAG CAGGAGCTGC GCGAGCTGCG GCGAGAGCTG GAGCTGTTGG : 47975725 426 : GCTGTGCCAG CAGGAGCTGC GCGAGCTGCG GCGAGAGCTG GAGCTGTTGG : 475 143 : L C Q Q E L R E L R R E L E L L : 158 47975726 : GCCGCGAGCG TGACCGGGTG CAGGTGGAGC GCGACGGGCT GGCGGAGGAC : 47975775 476 : GCCGCGAGCG TGACCGGGTG CAGGTGGAGC GCGACGGGCT GGCGGAGGAC : 525 159 : G R E R D R V Q V E R D G L A E D : 175 47975776 : CTGGCGGCGC TCAAGCAGAG GTCAGGGGGC AGGGCTGGGC CGCTGCCGTC : 47975825 526 : CTGGCGGCGC TCAAGCAGAG : 545 176 : L A A L K Q R : 182 VARIANTS : C : VARIANTS 47975826 : GAGGCGAGGT CGAAGCGGCC GTCGAGGCGG CTGCTCTTGC CTCCCCTCGC : 47975875 47975876 : TTCCCCTCTC CATCAGCAGC CCAAGGGTGT GGCTCCCCTT ACCAACCCAG : 47975925 47975926 : GTGTGTGCGG GCAGCATCCC TGCCCACGGG CTCCAAGTGC CCCCCGCTAC : 47975975 47975976 : CCCTTTGCTC TGAGTGTTTG GGGAGGTGGG AGAAGTGGGT ATCTGTGCCT : 47976025 47976026 : CCCCTGAGTA ATGAGGAAAC CCCCTTTTCA GCTCCCAGTC CGTTAGAGAC : 47976075 47976076 : AATGCGGGGC AATTCCATTA GACAGCCTCA GCCCTCCATT TAGAGTCCTG : 47976125 47976126 : GGCAGCAGAA CAGCCTCTAA CCGGATCCTG GGGGGCGTGC GGTCTGGGGT : 47976175 47976176 : GCGAGCTGGG CGGCGACCCC GCAGTTCAGC CTCTGCACGC TCTTCCCGTC : 47976225 47976226 : AGGTTGGAGG AGGAGACGCG CAAGCGGGAG GACGCGGAGC ACAACCTCGT : 47976275 546 : GTTGGAGG AGGAGACGCG CAAGCGGGAG GACGCGGAGC ACAACCTCGT : 593 183 : L E E E T R K R E D A E H N L V : 198 47976276 : GCTCTTCCGC AAGGTGAGTC CGAGCCCCTC TCCGAGTTCA GCCTCCCCAC : 47976325 594 : GCTCTTCCGC AAG : 606 199 : L F R K : 202 47976326 : CGCTACCCCC GATCTCAGTA TCCAGAGGTG GCATCGGTGG GCGCGGGGAG : 47976375 VARIANTS : C : VARIANTS 47976376 : AAGGGGGTAA CCCAGATGCC TCCTGAGGCA GACAGGGAAG GCCTGGTCCT : 47976425 47976426 : TCCTTGGTCT GCGCAGCCCC TAACTTATCT TGAACCTCCA CTGCCACCCC : 47976475 47976476 : TCGAAGGACG TGGACGATGC CACTCTGTCC CGCCTGGAAC TAGAGCGCAA : 47976525 607 : GACG TGGACGATGC CACTCTGTCC CGCCTGGAAC TAGAGCGCAA : 650 203 : D V D D A T L S R L E L E R K : 217 47976526 : GATTGAGTCT CTGATGGATG AGATTGAGTT CCTCAAGAAG CTGCACGAGG : 47976575 651 : GATTGAGTCT CTGATGGATG AGATTGAGTT CCTCAAGAAG CTGCACGAGG : 700 218 : I E S L M D E I E F L K K L H E : 233 47976576 : AGGTAAGTGG GCCCGGTATC AGGGGCGGTT TCTGAGGTTG TGGGGTGGTC : 47976625 701 : AG : 702 234 : E : 234 47976626 : TCGCTGGAGC TGGCGGGTGG AGCGGAGGCA TCGCCCTGGG GATCAGGACG : 47976675 47976676 : ATGCTGGGTA GACGCAGCCC CTCCACCCTA GTCTACAGGT GGTTAGACTC : 47976725 47976726 : CCACCCTTGC GCCACCTGGC GGCGGGCAGC GGGGCTGTAC CTCCGAAACC : 47976775 47976776 : TGGCCTCTGG TCTCGCGCCC GCGGGGGCGC AGGGCTGTAC GCCCTGCCCT : 47976825 47976826 : CCCTGGCGCC CACTTCTGTT CGTTCAAGCG TTTCTTCTCT TTTCTGTGCA : 47976875 47976876 : CGAACTGCGT GGCCCGCGTG GAATTTGCGC CGCTGTCCAT CCTCTGCCTG : 47976925 47976926 : CTCCCGGCCG TAGGAGCTGC GAGACCTGCA GGTGAGTGTG GAGAGCCAGC : 47976975 703 : GAGCTGC GAGACCTGCA GGTGAGTGTG GAGAGCCAGC : 739 235 : E L R D L Q V S V E S Q : 246 47976976 : AGGTGCAGCA GGTGGAGGTG GAAGCCACGG TGAAGCCCGA GCTGACGGCA : 47977025 740 : AGGTGCAGCA GGTGGAGGTG GAAGCCACGG TGAAGCCCGA GCTGACGGCA : 789 247 : Q V Q Q V E V E A T V K P E L T A : 263 VARIANTS : A : VARIANTS 47977026 : GCGCTGAGGG ACATCCGCGC GCAGTACGAG AGCATCGCCG CGAAGAACCT : 47977075 790 : GCGCTGAGGG ACATCCGCGC GCAGTACGAG AGCATCGCCG CGAAGAACCT : 839 264 : A L R D I R A Q Y E S I A A K N L : 280 VARIANTS : T : VARIANTS 47977076 : GCAGGAGGCG GAGGAGTGGT ACAAGTCCAA GGTGCAAGAG CCGGGAGGGC : 47977125 840 : GCAGGAGGCG GAGGAGTGGT ACAAGTCCAA G : 870 281 : Q E A E E W Y K S K : 290 47977126 : CTGCGAGGCG GGACGCTGGG GTGGTGTCGC GCGTCCCAGC CGACTAAAGC : 47977175 47977176 : CTGGGTTACC CCCACTTCTC AGTACGCGGA CCTGTCCGAC GCTGCCAACC : 47977225 871 : TACGCGGA CCTGTCCGAC GCTGCCAACC : 898 291 : Y A D L S D A A N : 299 47977226 : GGAACCACGA GGCCCTGCGC CAGGCCAAGC AGGAGATGAA CGAGTCCCGA : 47977275 899 : GGAACCACGA GGCCCTGCGC CAGGCCAAGC AGGAGATGAA CGAGTCCCGA : 948 300 : R N H E A L R Q A K Q E M N E S R : 316 47977276 : CGCCAGATCC AGAGTCTAAC GTGCGAGGTG GACGGGCTGC GCGGCACGGT : 47977325 949 : CGCCAGATCC AGAGTCTAAC GTGCGAGGTG GACGGGCTGC GCGGCACG : 996 317 : R Q I Q S L T C E V D G L R G T : 332 47977326 : GAGTACGAAG CTGCGCGCTC GGGCCCGGGG AGCGGACGAT GAAATGTTCT : 47977375 47977376 : GCAACTGGCC CCTTCCACTC TCCTACCCCA GAACGAGGCG CTGCTCAGGC : 47977425 997 : AACGAGGCG CTGCTCAGGC : 1015 333 : N E A L L R : 338 47977426 : AGTTGAGAGA GCTGGAGGAG CAGTTCGCCC TGGAGGCGGG GGGCTACCAG : 47977475 1016 : AGTTGAGAGA GCTGGAGGAG CAGTTCGCCC TGGAGGCGGG GGGCTACCAG : 1065 339 : Q L R E L E E Q F A L E A G G Y Q : 355 VARIANTS : G : VARIANTS 47977476 : GCGGGCGCTG CGCGGCTCGA GGAGGAGCTG CGACAGCTAA AAGAGGAGAT : 47977525 1066 : GCGGGCGCTG CGCGGCTCGA GGAGGAGCTG CGACAGCTAA AAGAGGAGAT : 1115 356 : A G A A R L E E E L R Q L K E E M : 372 47977526 : GGCGCGGCAC CTGAGGGAGT ACCAGGAGCT CCTCAACGTC AAGATGGCCC : 47977575 1116 : GGCGCGGCAC CTGAGGGAGT ACCAGGAGCT CCTCAACGTC AAGATGGCCC : 1165 373 : A R H L R E Y Q E L L N V K M A : 388 47977576 : TGGACATCGA GATCGCCACC TACCGCAAGC TGCTGGAGGG CGAGGAGAGC : 47977625 1166 : TGGACATCGA GATCGCCACC TACCGCAAGC TGCTGGAGGG CGAGGAGAGC : 1215 389 : L D I E I A T Y R K L L E G E E S : 405 VARIANTS : A A : VARIANTS 47977626 : CGGTGAGGGT GGAGCTGCTG GGGCGGGGCA GGGCGGGGTC GGGACTGGGC : 47977675 1216 : CG : 1217 406 : R : 406 47977676 : CGGGCAGGGC GGGGCCTGGG CAGGGGCGCT GACAACTTGC TTCGCCTCTA : 47977725 47977726 : GGATCTCCGT GCCCGTCCAT TCTTTTGCCT CCTTAAATAT AAAGACGACT : 47977775 1218 : GATCTCCGT GCCCGTCCAT TCTTTTGCCT CCTTAAATAT AAAGACGACT : 1266 407 : I S V P V H S F A S L N I K T T : 422 47977776 : GGTGAGTCTG GCTTACAGCC TGTACCTCTC CTTGTCCACT TCTGCCCTCC : 47977825 1267 : G : 1267 VARIANTS : C : VARIANTS 47977826 : TCGGGCTCTT GCTCTGGCTC ACCTCAGGGA TCTCTTCTCC CCACGGAACT : 47977875 47977876 : TCTGGGTCCT GGCCTGTACC CACCCCTACT CCTCAAACCC GCCCCTCCCC : 47977925 47977926 : TGCCCTCAGG GATAGCAGTG GGAGCCTAAG AGGAGAGATT CCCACGCCTT : 47977975 47977976 : CCCCCTTGAA CCCTTTATCC TGCTTTCTTC AGTGCCTGAG GTGGAGCCTC : 47978025 1268 : TGCCTGAG GTGGAGCCTC : 1285 423 : V P E V E P : 428 47978026 : CCCAGGACAG CCACAGCCGG AAGACGGTTC TGATCAAGAC CATTGAGACC : 47978075 1286 : CCCAGGACAG CCACAGCCGG AAGACGGTTC TGATCAAGAC CATTGAGACC : 1335 429 : P Q D S H S R K T V L I K T I E T : 445 47978076 : CGGAATGGGG AGGTGAGGCA GGTCCCCTAA TGCCAGGACC CCACCATTTC : 47978125 1336 : CGGAATGGGG AG : 1347 446 : R N G E : 449 47978126 : CCATATTATT TCTGAGCCCC AGCCTGGCTG TCGCTAATCT TACTTAGGGT : 47978175 47978176 : GGGTAATTCT TGGGGAGAGA CAGAGAAGGA GACAGAGAAC GTGGATAGAT : 47978225 47978226 : AACCAGGAGC CTCTGCTGGT TACCCCAGGG AGTGGGGCTC TATGATCCAA : 47978275 VARIANTS : ii : VARIANTS 47978276 : AGGAGTAGGA TGGAGGGTGG CGCTGAATGG CTTGTGCCCA TCATATGCCC : 47978325 47978326 : TGTCCCCAGC AGGTGGTGAC AGAGTCCCAG AAGGAGCAGC GCAGTGAGCT : 47978375 1348 : GTGGTGAC AGAGTCCCAG AAGGAGCAGC GCAGTGAGCT : 1385 450 : V V T E S Q K E Q R S E L : 462 47978376 : GGACAAGTCT TCTGCCCACA GTTACTGAAC CCCTTGGTCC GGAGCCTTGA : 47978425 1386 : GGACAAGTCT TCTGCCCACA GTTACTGAAC CCCTTGGTCC GGAGCCTTGA : *22 463 : D K S S A H S Y : 470 47978426 : CTCTGCCCTA GGCCTGCTCA AAGCCCAAAC CCTAAGACCA CTCCTGAATT : 47978475 *23 : CTCTGCCCTA GGCCTGCTCA AAGCCCAAAC CCTAAGACCA CTCCTGAATT : *72 47978476 : GTCTCCTCTC CCTCTGCATG TGTCTAAAAG GTGGTACCAG GCATCCCTTT : 47978525 *73 : GTCTCCTCTC CCTCTGCATG TGTCTAAAAG GTGGTACCAG GCATCCCTTT : *122 47978526 : CCTGGCTTAT GGCCAAGCCC TACCCGGCCA GCAGTCGCTG GGCCTCTCCC : 47978575 *123 : CCTGGCTTAT GGCCAAGCCC TACCCGGCCA GCAGTCGCTG GGCCTCTCCC : *172 47978576 : TGCCCTGACA CTTGATGTGA CCTATGTGCT TCCCTTTTCA TGTCCCGATA : 47978625 *173 : TGCCCTGACA CTTGATGTGA CCTATGTGCT TCCCTTTTCA TGTCCCGATA : *222 47978626 : AGAAGCCAAT GATCCCCCCT CAGGACAAAT CTACTCCAGC CACGATGAGA : 47978675 *223 : AGAAGCCAAT GATCCCCCCT CAGGACAAAT CTACTCCAGC CACGATGAGA : *272 47978676 : AGTGGGTGAG CCAGGGTCTG AGTTTCACAT TTGAACCAAA TAAAATGCTG : 47978725 *273 : AGTGGGTGAG CCAGGGTCTG AGTTTCACAT TTGAACCAAA TAAAATGCTG : *322 47978726 : TCAAGAGAAA ACTCTCCAGT GCA : 47978748 *323 : TCAAGAGAAA ACTCTCCAGT GCA : *345 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:01:19 RefSeq ID NM_006262.3 GI 66932907 Length 1833 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -75 CCTCGCAGCG GTCTGCGGCT CCTTCCCAGC CCCCGGCCTA GCTCTGCGAA -26 -25 CGGTGACTGC CCATCCTTGG CCGCAATGAG CCACCACCCG TCGGGCCTCC 25 26 GGGCCGGCTT CAGCTCCACC TCATACCGCC GTACCTTCGG TCCACCGCCC 75 76 TCACTATCCC CCGGGGCCTT CTCCTACTCG TCCAGCTCCC GCTTCTCCAG 125 126 CAGCCGCCTG CTGGGCTCCG CGTCCCCGAG CTCCTCGGTG CGCCTGGGCA 175 176 GCTTCCGTAG CCCCCGAGCG GGAGCGGGCG CCCTCCTGCG CCTGCCCTCG 225 226 GAGCGCCTCG ACTTCTCCAT GGCCGAGGCC CTCAACCAGG AGTTCCTGGC 275 276 CACGCGCAGC AACGAGAAGC AGGAGCTGCA GGAGCTCAAC GACCGCTTCG 325 326 CCAACTTCAT CGAGAAGGTA CGCTTTCTGG AGCAGCAGAA CGCGGCCCTG 375 376 CGCGGGGAGC TGAGCCAAGC CCGGGGCCAG GAGCCGGCGC GCGCCGACCA 425 426 GCTGTGCCAG CAGGAGCTGC GCGAGCTGCG GCGAGAGCTG GAGCTGTTGG 475 476 GCCGCGAGCG TGACCGGGTG CAGGTGGAGC GCGACGGGCT GGCGGAGGAC 525 526 CTGGCGGCGC TCAAGCAGAG GTTGGAGGAG GAGACGCGCA AGCGGGAGGA 575 576 CGCGGAGCAC AACCTCGTGC TCTTCCGCAA GGACGTGGAC GATGCCACTC 625 626 TGTCCCGCCT GGAACTAGAG CGCAAGATTG AGTCTCTGAT GGATGAGATT 675 676 GAGTTCCTCA AGAAGCTGCA CGAGGAGGAG CTGCGAGACC TGCAGGTGAG 725 726 TGTGGAGAGC CAGCAGGTGC AGCAGGTGGA GGTGGAAGCC ACGGTGAAGC 775 776 CCGAGCTGAC GGCAGCGCTG AGGGACATCC GCGCGCAGTA CGAGAGCATC 825 826 GCCGCGAAGA ACCTGCAGGA GGCGGAGGAG TGGTACAAGT CCAAGTACGC 875 876 GGACCTGTCC GACGCTGCCA ACCGGAACCA CGAGGCCCTG CGCCAGGCCA 925 926 AGCAGGAGAT GAACGAGTCC CGACGCCAGA TCCAGAGTCT AACGTGCGAG 975 976 GTGGACGGGC TGCGCGGCAC GAACGAGGCG CTGCTCAGGC AGTTGAGAGA 1025 1026 GCTGGAGGAG CAGTTCGCCC TGGAGGCGGG GGGCTACCAG GCGGGCGCTG 1075 1076 CGCGGCTCGA GGAGGAGCTG CGACAGCTAA AAGAGGAGAT GGCGCGGCAC 1125 1126 CTGAGGGAGT ACCAGGAGCT CCTCAACGTC AAGATGGCCC TGGACATCGA 1175 1176 GATCGCCACC TACCGCAAGC TGCTGGAGGG CGAGGAGAGC CGGATCTCCG 1225 1226 TGCCCGTCCA TTCTTTTGCC TCCTTAAATA TAAAGACGAC TGTGCCTGAG 1275 1276 GTGGAGCCTC CCCAGGACAG CCACAGCCGG AAGACGGTTC TGATCAAGAC 1325 1326 CATTGAGACC CGGAATGGGG AGGTGGTGAC AGAGTCCCAG AAGGAGCAGC 1375 1376 GCAGTGAGCT GGACAAGTCT TCTGCCCACA GTTACTGAAC CCCTTGGTCC *12 *13 GGAGCCTTGA CTCTGCCCTA GGCCTGCTCA AAGCCCAAAC CCTAAGACCA *62 *63 CTCCTGAATT GTCTCCTCTC CCTCTGCATG TGTCTAAAAG GTGGTACCAG *112 *113 GCATCCCTTT CCTGGCTTAT GGCCAAGCCC TACCCGGCCA GCAGTCGCTG *162 *163 GGCCTCTCCC TGCCCTGACA CTTGATGTGA CCTATGTGCT TCCCTTTTCA *212 *213 TGTCCCGATA AGAAGCCAAT GATCCCCCCT CAGGACAAAT CTACTCCAGC *262 *263 CACGATGAGA AGTGGGTGAG CCAGGGTCTG AGTTTCACAT TTGAACCAAA *312 *313 TAAAATGCTG TCAAGAGAAA ACTCTCCAGT GCA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:01:19 RefSeq ID NP_006253.2 GI 21264345 Isoelectric Point 5.148 Molecular Weight 53650.7 Daltons Length 470 amino acids Download File | Text Sequence 1 MSHHPSGLRA GFSSTSYRRT FGPPPSLSPG AFSYSSSSRF SSSRLLGSAS 50 51 PSSSVRLGSF RSPRAGAGAL LRLPSERLDF SMAEALNQEF LATRSNEKQE 100 101 LQELNDRFAN FIEKVRFLEQ QNAALRGELS QARGQEPARA DQLCQQELRE 150 151 LRRELELLGR ERDRVQVERD GLAEDLAALK QRLEEETRKR EDAEHNLVLF 200 201 RKDVDDATLS RLELERKIES LMDEIEFLKK LHEEELRDLQ VSVESQQVQQ 250 251 VEVEATVKPE LTAALRDIRA QYESIAAKNL QEAEEWYKSK YADLSDAANR 300 301 NHEALRQAKQ EMNESRRQIQ SLTCEVDGLR GTNEALLRQL RELEEQFALE 350 351 AGGYQAGAAR LEEELRQLKE EMARHLREYQ ELLNVKMALD IEIATYRKLL 400 401 EGEESRISVP VHSFASLNIK TTVPEVEPPQ DSHSRKTVLI KTIETRNGEV 450 451 VTESQKEQRS ELDKSSAHSY Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 97 1A 98 132 L1 133 140 1B 141 241 L12 242 259 2A 260 278 L2 279 286 2B 287 407 Tail 408 470 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 4559. Information last updated on 2007-08-17 12:22:48 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 24688 NM_012633.1 NP_036765.1 Rodents Mus musculus 19132 NM_013639.1 NP_038667.1 Rodents Canis familiaris 477618 XM_534812.2 XP_534812.2 Mammals Pan troglodytes 451877 XM_509044.2 XP_509044.2 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 2006-09-26 08:50:20 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Amyotrophic lateral sclerosis 1 ALS1 #105400 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 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 Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference 9322 c.229delC Deletion p.Arg77AlafsX53 Frame shift Head ALS1 Gros-Louis et al, 2004 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 2007-08-14 13:51:18 * 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. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 11286 c.-23G>C Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11280 c.26G>A Substitution p.Arg9Gln Substitution Head French, Canadian, French-Canadian - Gros-Louis et al, 2004 11281 c.63C>T Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11282 c.421G>T Substitution p.Asp141Tyr Substitution 1B French, Canadian, French-Canadian - Gros-Louis et al, 2004 11287 c.545+69G>C Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11288 c.607-77A>C Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11283 c.829G>A Substitution p.Ala276Thr Substitution 2A French, Canadian, French-Canadian - Gros-Louis et al, 2004 11284 c.1083C>G Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11285 c.1108A>G Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11289 c.1217+27C>A Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11290 c.1217+43C>A Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11291 c.1267+58T>C Substitution p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 11292 c.1348-36_1348-35insA Insertion p.= Silent Not affected French, Canadian, French-Canadian - Gros-Louis et al, 2004 Back to top