Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:05:43 * 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 8p21 Chromosome Strand + Chromosome GI 51511724 Chromosome RefSeq ID NC_000008.9 24827179 : GCTGTGACAG CCACACGCCC CAAGGCCTCC AAGATGAGCT ACACGTTGGA : 24827228 -33 : GCTGTGACAG CCACACGCCC CAAGGCCTCC AAGATGAGCT ACACGTTGGA : 17 1 : M S Y T L D : 6 24827229 : CTCGCTGGGC AACCCGTCCG CCTACCGGCG GGTAACCGAG ACCCGCTCGA : 24827278 18 : CTCGCTGGGC AACCCGTCCG CCTACCGGCG GGTAACCGAG ACCCGCTCGA : 67 7 : S L G N P S A Y R R V T E T R S : 22 VARIANTS : A : VARIANTS 24827279 : GCTTCAGCCG CGTCAGCGGC TCCCCGTCCA GTGGCTTCCG CTCGCAGTCG : 24827328 68 : GCTTCAGCCG CGTCAGCGGC TCCCCGTCCA GTGGCTTCCG CTCGCAGTCG : 117 23 : S F S R V S G S P S S G F R S Q S : 39 VARIANTS : Y : VARIANTS 24827329 : TGGTCCCGCG GCTCGCCCAG CACCGTGTCC TCCTCCTATA AGCGCAGCAT : 24827378 118 : TGGTCCCGCG GCTCGCCCAG CACCGTGTCC TCCTCCTATA AGCGCAGCAT : 167 40 : W S R G S P S T V S S S Y K R S M : 56 24827379 : GCTCGCCCCG CGCCTCGCTT ACAGCTCGGC CATGCTCAGC TCCGCCGAGA : 24827428 168 : GCTCGCCCCG CGCCTCGCTT ACAGCTCGGC CATGCTCAGC TCCGCCGAGA : 217 57 : L A P R L A Y S S A M L S S A E : 72 24827429 : GCAGCCTTGA CTTCAGCCAG TCCTCGTCCC TGCTCAACGG CGGCTCCGGA : 24827478 218 : GCAGCCTTGA CTTCAGCCAG TCCTCGTCCC TGCTCAACGG CGGCTCCGGA : 267 73 : S S L D F S Q S S S L L N G G S G : 89 24827479 : CCCGGCGGCG ACTACAAGCT GTCCCGCTCC AACGAGAAGG AGCAGCTGCA : 24827528 268 : CCCGGCGGCG ACTACAAGCT GTCCCGCTCC AACGAGAAGG AGCAGCTGCA : 317 90 : P G G D Y K L S R S N E K E Q L Q : 106 24827529 : GGGGCTGAAC GACCGCTTTG CCGGCTACAT AGAGAAGGTG CACTACCTGG : 24827578 318 : GGGGCTGAAC GACCGCTTTG CCGGCTACAT AGAGAAGGTG CACTACCTGG : 367 107 : G L N D R F A G Y I E K V H Y L : 122 VARIANTS : G : VARIANTS 24827579 : AGCAGCAGAA TAAGGAGATT GAGGCGGAGA TCCAGGCGCT GCGGCAGAAG : 24827628 368 : AGCAGCAGAA TAAGGAGATT GAGGCGGAGA TCCAGGCGCT GCGGCAGAAG : 417 123 : E Q Q N K E I E A E I Q A L R Q K : 139 VARIANTS : M : VARIANTS VARIANTS : C : VARIANTS 24827629 : CAGGCCTCGC ACGCCCAGCT GGGCGACGCG TACGACCAGG AGATCCGCGA : 24827678 418 : CAGGCCTCGC ACGCCCAGCT GGGCGACGCG TACGACCAGG AGATCCGCGA : 467 140 : Q A S H A Q L G D A Y D Q E I R E : 156 24827679 : GCTGCGCGCC ACCCTGGAGA TGGTGAACCA CGAGAAGGCT CAGGTGCAGC : 24827728 468 : GCTGCGCGCC ACCCTGGAGA TGGTGAACCA CGAGAAGGCT CAGGTGCAGC : 517 157 : L R A T L E M V N H E K A Q V Q : 172 24827729 : TGGACTCGGA CCACCTGGAG GAAGACATCC ACCGGCTCAA GGAGCGCTTT : 24827778 518 : TGGACTCGGA CCACCTGGAG GAAGACATCC ACCGGCTCAA GGAGCGCTTT : 567 173 : L D S D H L E E D I H R L K E R F : 189 24827779 : GAGGAGGAGG CGCGGTTGCG CGACGACACT GAGGCGGCCA TCCGCGCGCT : 24827828 568 : GAGGAGGAGG CGCGGTTGCG CGACGACACT GAGGCGGCCA TCCGCGCGCT : 617 190 : E E E A R L R D D T E A A I R A L : 206 24827829 : GCGCAAAGAC ATCGAGGAGG CGTCGCTGGT CAAGGTGGAG CTGGACAAGA : 24827878 618 : GCGCAAAGAC ATCGAGGAGG CGTCGCTGGT CAAGGTGGAG CTGGACAAGA : 667 207 : R K D I E E A S L V K V E L D K : 222 24827879 : AGGTGCAGTC GCTGCAGGAT GAGGTGGCCT TCCTGCGGAG CAACCACGAG : 24827928 668 : AGGTGCAGTC GCTGCAGGAT GAGGTGGCCT TCCTGCGGAG CAACCACGAG : 717 223 : K V Q S L Q D E V A F L R S N H E : 239 24827929 : GAGGAGGTGG CCGACCTTCT GGCCCAGATC CAGGCATCGC ACATCACGGT : 24827978 718 : GAGGAGGTGG CCGACCTTCT GGCCCAGATC CAGGCATCGC ACATCACGGT : 767 240 : E E V A D L L A Q I Q A S H I T V : 256 24827979 : GGAGCGCAAA GACTACCTGA AGACAGACAT CTCGACGGCG CTGAAGGAAA : 24828028 768 : GGAGCGCAAA GACTACCTGA AGACAGACAT CTCGACGGCG CTGAAGGAAA : 817 257 : E R K D Y L K T D I S T A L K E : 272 VARIANTS : A : VARIANTS 24828029 : TCCGCTCCCA GCTCGAAAGC CACTCAGACC AGAATATGCA CCAGGCCGAA : 24828078 818 : TCCGCTCCCA GCTCGAAAGC CACTCAGACC AGAATATGCA CCAGGCCGAA : 867 273 : I R S Q L E S H S D Q N M H Q A E : 289 VARIANTS : R : VARIANTS 24828079 : GAGTGGTTCA AATGCCGCTA CGCCAAGCTC ACCGAGGCGG CCGAGCAGAA : 24828128 868 : GAGTGGTTCA AATGCCGCTA CGCCAAGCTC ACCGAGGCGG CCGAGCAGAA : 917 290 : E W F K C R Y A K L T E A A E Q N : 306 24828129 : CAAGGAGGCC ATCCGCTCCG CCAAGGAAGA GATCGCCGAG TACCGGCGCC : 24828178 918 : CAAGGAGGCC ATCCGCTCCG CCAAGGAAGA GATCGCCGAG TACCGGCGCC : 967 307 : K E A I R S A K E E I A E Y R R : 322 VARIANTS : A : VARIANTS 24828179 : AGCTGCAGTC CAAGAGCATC GAGCTAGAGT CGGTGCGCGG CACCAAGGAG : 24828228 968 : AGCTGCAGTC CAAGAGCATC GAGCTAGAGT CGGTGCGCGG CACCAAGGAG : 1017 323 : Q L Q S K S I E L E S V R G T K E : 339 VARIANTS : S : VARIANTS 24828229 : TCCCTGGAGC GGCAGCTCAG CGACATCGAG GAGCGCCACA ACCACGACCT : 24828278 1018 : TCCCTGGAGC GGCAGCTCAG CGACATCGAG GAGCGCCACA ACCACGACCT : 1067 340 : S L E R Q L S D I E E R H N H D L : 356 24828279 : CAGCAGCTAC CAGGTAGGAA CCGCGGCTGC GCGGCCAGCC TGCGCCAGCG : 24828328 1068 : CAGCAGCTAC CAG : 1080 357 : S S Y Q : 360 24828329 : CCAGCGCCGC GCGCCCCCGA CACTTGGGCT CGTGCCCAGG CGCCCTCTCC : 24828378 24828379 : GCCGCGCTCC CTGGTGGCCG CTCGCTAGAG CACGCGCGCC GCAGACCTAG : 24828428 24828429 : GGTATTTGCG GATCAGCGTC CTCGCCCATC TCATCCTCCA CACTCCGCCC : 24828478 24828479 : CCACCCACCT GCCCCAGCTG CTAAGGGTCT TGACCTTTTT CAGAAACGTG : 24828528 24828529 : CATCTTTTCC AGTTCTAATT TTGCACGCTT GCACGTTTAA AGCAGGAGGG : 24828578 24828579 : ATGAATTCGG TAGTGGATAA ATCAGCAACT TTAGGATAGC TTATGCAGAA : 24828628 24828629 : ACGCGTGTAT TCTCTACTTT TCCGGCAGTG ATCGGAAGAG CTCTCAAAAT : 24828678 24828679 : TGGCTTCAGC CCAAAGGGCT CAGATGGGAA TGGCCAGGTC AGCCATGGAG : 24828728 24828729 : TTTCCCCATG CATGTTTGTG TCCTGTTGAG ACGTGTTCTA AGTCCACTGG : 24828778 24828779 : TCTCCGTGCG TGATGTGCCC AGGAAGTGTC CTATTGTCTT ACTGATCTTG : 24828828 24828829 : TATGTTCATT TGAGAATCGC TTAGATTTAA AAGAAAAAGG GGGTGGGACG : 24828878 24828879 : GGGGGCTGGG AGTCAGGTGT CAGCGAGGTT TGCAGAAGTG GAGGGAGACG : 24828928 24828929 : GGAGGAGGCC AGGGGGAAGG GGTAGCAAGT GGTTTGCGAA GGAAGTTGCT : 24828978 24828979 : GTTTGCAAGG ATGAGTCTGG GGAGATTCTC TGTGTCTGTT TCAGGACACC : 24829028 1081 : GACACC : 1086 361 : D T : 362 VARIANTS : C : VARIANTS 24829029 : ATCCAGCAGC TGGAAAATGA GCTTCGGGGC ACAAAGTGGG AAATGGCTCG : 24829078 1087 : ATCCAGCAGC TGGAAAATGA GCTTCGGGGC ACAAAGTGGG AAATGGCTCG : 1136 363 : I Q Q L E N E L R G T K W E M A R : 379 24829079 : TCATTTGCGC GAATACCAGG ACCTCCTCAA CGTCAAGATG GCTCTGGATA : 24829128 1137 : TCATTTGCGC GAATACCAGG ACCTCCTCAA CGTCAAGATG GCTCTGGATA : 1186 380 : H L R E Y Q D L L N V K M A L D : 395 24829129 : TAGAAATCGC TGCGTACAGG TACGATGCTT ACTACGTGCG TGGCCGGAAC : 24829178 1187 : TAGAAATCGC TGCGTACAG : 1205 396 : I E I A A Y R : 402 24829179 : ACTAACCGCA GTGCAGAGGC TGTTCCGGCA GAGCTTCCAC CACTTAAGTT : 24829228 24829229 : AAAGCAGGCA GGGTGCAGGC ATCAACTCAG CACCTGGTTA TCTTGCTTAC : 24829278 24829279 : TTAAAAAGAA ATTATTCTAA AGAATTGCAA GTGTAGTTTT ATCTCTTTTT : 24829328 24829329 : ATGCAGCTTT AAAAGAATGA ATACTAGTAG AAACAAAAGG TTTTTGAATT : 24829378 24829379 : ACACAAAGGA GGTGCAGATT AATCTCAATG CACATGCTTA AACTTTTTAT : 24829428 24829429 : GGAAAAATGT TTTCAAATGC TGGAAGCATG AACAGAGTTT TGGTTTCTAA : 24829478 24829479 : TATTTCATCT AGTGGTTTCA GCTTTTCAAA TGTATAATGT CAAGGACAAA : 24829528 24829529 : CACCAGGACG TTCTATTTCT CTGTTTCTCT GTTATATAGC TTACTATTGC : 24829578 24829579 : CATCATCTGG CTGAGAATAG ATATAGAATG ATAGAATATA GATATAGTTC : 24829628 24829629 : TTTTATATAT GTAGATAATT TATATGTATT ATATTTTATG CTAGACTGTA : 24829678 24829679 : GTATAAATTA TATCAATATA TCATGTATGA TATTAATCTA GATCTATAGA : 24829728 24829729 : TACACATATG TGCATATGCA TATAAATCTA GATATATAGA CACAAATATA : 24829778 24829779 : TATGATCGTT TTATAGATAG TGAGATAGGT TATAGGTCTA TTAACTGAAG : 24829828 24829829 : TGACCTTGCT GTTGACTAAG CGCAAAGGAC AAAATCGTTG ATTAAAATTT : 24829878 24829879 : TTCTGCTACC AATAAGGTAG TTATAATATA ACGAGAATAA ATTGCATTTA : 24829928 24829929 : CAGAGCTATC TCTCTTTTCA GGAAAGCTGA ATAACTACAT TAAATAGACA : 24829978 24829979 : CTTTATGATA AAAATTATCA ACAAATTTAT AACTCGATAC ACCTGAAAAT : 24830028 24830029 : CTAAACGTTT AAGAAAGTGA CTACTCTCAG AAAGGCTGTT TGGCTTTGGA : 24830078 24830079 : GTTTGGGGGC GTTTTGTTTA TGGCTTTTTG TTTTTTTGTT TTTGTTTTTG : 24830128 24830129 : TTTTTTGCTA TTTGGCCACT AACAAGTTTT TCAGCATATT CATGTTGTAC : 24830178 24830179 : CTAATGGATC TCTACTGCAG GGCCAAGACT TAGTAGCTGG GTGTGGTTAG : 24830228 24830229 : TGGACTATTG GGCAAGGTTA GTCATTGTAG GGGGCAACTG TCTGGCAGTC : 24830278 24830279 : CAGGAGAATC TTTCTCTGTC ACTGAGTATA ATGTAATATG CCAGTAAGTG : 24830328 24830329 : ATAGCAGGTA TTATAGTGAA TTCATAGAAT ATTCTACTTA TGTAATTCTA : 24830378 24830379 : TTTATTCAAA GGTAGCTACC ACAATACCCA GAATGTAATG AAGCTCAGAA : 24830428 24830429 : GGCCTAGTGA AATTTTTACT ATGTCTTATG TTCTTGGATT TTCTCCTTAG : 24830478 24830479 : AAAACTCCTG GAGGGTGAAG AGACTAGATT TAGCACATTT GCAGGAAGCA : 24830528 1206 : AAAACTCCTG GAGGGTGAAG AGACTAGATT TAGCACATTT GCAGGAAGCA : 1255 403 : K L L E G E E T R F S T F A G S : 418 24830529 : TCACTGGGCC ACTGTATACA CACCGACCCC CAATCACAAT ATCCAGTAAG : 24830578 1256 : TCACTGGGCC ACTGTATACA CACCGACCCC CAATCACAAT ATCCAGTAAG : 1305 419 : I T G P L Y T H R P P I T I S S K : 435 24830579 : ATTCAGAAAC CCAAGGTGGA AGCTCCCAAG CTTAAGGTCC AACACAAATT : 24830628 1306 : ATTCAGAAAC CCAAGGTGGA AGCTCCCAAG CTTAAGGTCC AACACAAATT : 1355 436 : I Q K P K V E A P K L K V Q H K F : 452 24830629 : TGTCGAGGAG ATCATAGAGG AAACCAAAGT GGAGGATGAG AAGTCAGAAA : 24830678 1356 : TGTCGAGGAG ATCATAGAGG AAACCAAAGT GGAGGATGAG AAGTCAGAAA : 1405 453 : V E E I I E E T K V E D E K S E : 468 VARIANTS : G A : VARIANTS 24830679 : TGGAAGAGGC CCTGACAGCC ATTACAGAGG AATTGGCCGT TTCCATGAAG : 24830728 1406 : TGGAAGAGGC CCTGACAGCC ATTACAGAGG AATTGGCCGT TTCCATGAAG : 1455 469 : M E E A L T A I T E E L A V S M K : 485 VARIANTS : A T : VARIANTS 24830729 : GAAGAGAAGA AAGAAGCAGC AGAAGAAAAG GAAGAGGAAC CCGAAGCTGA : 24830778 1456 : GAAGAGAAGA AAGAAGCAGC AGAAGAAAAG GAAGAGGAAC CCGAAGCTGA : 1505 486 : E E K K E A A E E K E E E P E A E : 502 24830779 : AGAAGAAGAA GTAGCTGCCA AAAAGTCTCC AGTGAAAGCA ACTGCACCTG : 24830828 1506 : AGAAGAAGAA GTAGCTGCCA AAAAGTCTCC AGTGAAAGCA ACTGCACCTG : 1555 503 : E E E V A A K K S P V K A T A P : 518 24830829 : AAGTTAAAGA AGAGGAAGGG GAAAAGGAGG AAGAAGAAGG CCAGGAAGAA : 24830878 1556 : AAGTTAAAGA AGAGGAAGGG GAAAAGGAGG AAGAAGAAGG CCAGGAAGAA : 1605 519 : E V K E E E G E K E E E E G Q E E : 535 24830879 : GAGGAGGAAG AAGATGAGGG AGCTAAGTCA GACCAAGCCG AAGAGGGAGG : 24830928 1606 : GAGGAGGAAG AAGATGAGGG AGCTAAGTCA GACCAAGCCG AAGAGGGAGG : 1655 536 : E E E E D E G A K S D Q A E E G G : 552 24830929 : ATCCGAGAAG GAAGGCTCTA GTGAAAAAGA GGAAGGTGAG CAGGAAGAAG : 24830978 1656 : ATCCGAGAAG GAAGGCTCTA GTGAAAAAGA GGAAGGTGAG CAGGAAGAAG : 1705 553 : S E K E G S S E K E E G E Q E E : 568 24830979 : GAGAAACAGA AGCTGAAGCT GAAGGAGAGG AAGCCGAAGC TAAAGAGGAA : 24831028 1706 : GAGAAACAGA AGCTGAAGCT GAAGGAGAGG AAGCCGAAGC TAAAGAGGAA : 1755 569 : G E T E A E A E G E E A E A K E E : 585 24831029 : AAGAAAGTGG AGGAAAAGAG TGAGGAAGTG GCTACCAAGG AGGAGCTGGT : 24831078 1756 : AAGAAAGTGG AGGAAAAGAG TGAGGAAGTG GCTACCAAGG AGGAGCTGGT : 1805 586 : K K V E E K S E E V A T K E E L V : 602 24831079 : GGCAGATGCC AAGGTGGAAA AGCCAGAAAA AGCCAAGTCT CCTGTGCCAA : 24831128 1806 : GGCAGATGCC AAGGTGGAAA AGCCAGAAAA AGCCAAGTCT CCTGTGCCAA : 1855 603 : A D A K V E K P E K A K S P V P : 618 24831129 : AATCACCAGT GGAAGAGAAA GGCAAGTCTC CTGTGCCCAA GTCACCAGTG : 24831178 1856 : AATCACCAGT GGAAGAGAAA GGCAAGTCTC CTGTGCCCAA GTCACCAGTG : 1905 619 : K S P V E E K G K S P V P K S P V : 635 24831179 : GAAGAGAAAG GCAAGTCTCC TGTGCCCAAG TCACCAGTGG AAGAGAAAGG : 24831228 1906 : GAAGAGAAAG GCAAGTCTCC TGTGCCCAAG TCACCAGTGG AAGAGAAAGG : 1955 636 : E E K G K S P V P K S P V E E K G : 652 24831229 : CAAGTCTCCT GTGCCGAAAT CACCAGTGGA AGAGAAAGGC AAGTCTCCTG : 24831278 1956 : CAAGTCTCCT GTGCCGAAAT CACCAGTGGA AGAGAAAGGC AAGTCTCCTG : 2005 653 : K S P V P K S P V E E K G K S P : 668 24831279 : TGTCAAAATC ACCAGTGGAA GAGAAAGCCA AATCTCCTGT GCCAAAATCA : 24831328 2006 : TGTCAAAATC ACCAGTGGAA GAGAAAGCCA AATCTCCTGT GCCAAAATCA : 2055 669 : V S K S P V E E K A K S P V P K S : 685 VARIANTS : C : VARIANTS 24831329 : CCAGTGGAAG AGGCAAAGTC AAAAGCAGAA GTGGGGAAAG GTGAACAGAA : 24831378 2056 : CCAGTGGAAG AGGCAAAGTC AAAAGCAGAA GTGGGGAAAG GTGAACAGAA : 2105 686 : P V E E A K S K A E V G K G E Q K : 702 VARIANTS : R : VARIANTS VARIANTS : C : VARIANTS 24831379 : AGAGGAAGAA GAAAAGGAAG TCAAGGAAGC TCCCAAGGAA GAGAAGGTAG : 24831428 2106 : AGAGGAAGAA GAAAAGGAAG TCAAGGAAGC TCCCAAGGAA GAGAAGGTAG : 2155 703 : E E E E K E V K E A P K E E K V : 718 VARIANTS : A : VARIANTS VARIANTS : A : VARIANTS 24831429 : AGAAAAAGGA AGAGAAACCA AAGGATGTGC CAGAGAAGAA GAAAGCTGAG : 24831478 2156 : AGAAAAAGGA AGAGAAACCA AAGGATGTGC CAGAGAAGAA GAAAGCTGAG : 2205 719 : E K K E E K P K D V P E K K K A E : 735 VARIANTS : Q : VARIANTS 24831479 : TCCCCTGTAA AGGAGGAAGC TGTGGCAGAG GTGGTCACCA TCACCAAATC : 24831528 2206 : TCCCCTGTAA AGGAGGAAGC TGTGGCAGAG GTGGTCACCA TCACCAAATC : 2255 736 : S P V K E E A V A E V V T I T K S : 752 VARIANTS : T : VARIANTS 24831529 : GGTAAAGGTG CACTTGGAGA AAGAGACCAA AGAAGAGGGG AAGCCACTGC : 24831578 2256 : GGTAAAGGTG CACTTGGAGA AAGAGACCAA AGAAGAGGGG AAGCCACTGC : 2305 753 : V K V H L E K E T K E E G K P L : 768 VARIANTS : L : VARIANTS 24831579 : AGCAGGAGAA AGAGAAGGAG AAAGCGGGAG GAGAGGGAGG AAGTGAGGAG : 24831628 2306 : AGCAGGAGAA AGAGAAGGAG AAAGCGGGAG GAGAGGGAGG AAGTGAGGAG : 2355 769 : Q Q E K E K E K A G G E G G S E E : 785 24831629 : GAAGGGAGTG ATAAAGGTGC CAAGGGATCC AGGAAGGAAG ACATAGCTGT : 24831678 2356 : GAAGGGAGTG ATAAAGGTGC CAAGGGATCC AGGAAGGAAG ACATAGCTGT : 2405 786 : E G S D K G A K G S R K E D I A V : 802 24831679 : CAATGGGGAG GTAGAAGGAA AAGAGGAGGT AGAGCAGGAG ACCAAGGAAA : 24831728 2406 : CAATGGGGAG GTAGAAGGAA AAGAGGAGGT AGAGCAGGAG ACCAAGGAAA : 2455 803 : N G E V E G K E E V E Q E T K E : 818 VARIANTS : d dd : VARIANTS 24831729 : AAGGCAGTGG GAGGGAAGAG GAGAAAGGCG TTGTCACCAA TGGCCTAGAC : 24831778 2456 : AAGGCAGTGG GAGGGAAGAG GAGAAAGGCG TTGTCACCAA TGGCCTAGAC : 2505 819 : K G S G R E E E K G V V T N G L D : 835 VARIANTS : d : VARIANTS 24831779 : TTGAGCCCAG CAGATGAAAA GAAGGGGGGT GATAAAAGTG AGGAGAAAGT : 24831828 2506 : TTGAGCCCAG CAGATGAAAA GAAGGGGGGT GATAAAAGTG AGGAGAAAGT : 2555 836 : L S P A D E K K G G D K S E E K V : 852 VARIANTS : A : VARIANTS 24831829 : GGTGGTGACC AAAACGGTAG AAAAAATCAC CAGTGAGGGG GGAGATGGTG : 24831878 2556 : GGTGGTGACC AAAACGGTAG AAAAAATCAC CAGTGAGGGG GGAGATGGTG : 2605 853 : V V T K T V E K I T S E G G D G : 868 VARIANTS : I : VARIANTS 24831879 : CTACCAAATA CATCACTAAA TCTGTAACCG TCACTCAAAA GGTTGAAGAG : 24831928 2606 : CTACCAAATA CATCACTAAA TCTGTAACCG TCACTCAAAA GGTTGAAGAG : 2655 869 : A T K Y I T K S V T V T Q K V E E : 885 24831929 : CATGAAGAGA CCTTTGAGGA GAAACTAGTG TCTACTAAAA AGGTAGAAAA : 24831978 2656 : CATGAAGAGA CCTTTGAGGA GAAACTAGTG TCTACTAAAA AGGTAGAAAA : 2705 886 : H E E T F E E K L V S T K K V E K : 902 24831979 : AGTCACTTCA CACGCCATAG TAAAGGAAGT CACCCAGAGT GACTAAGATT : 24832028 2706 : AGTCACTTCA CACGCCATAG TAAAGGAAGT CACCCAGAGT GACTAAGATT : *4 903 : V T S H A I V K E V T Q S D : 916 24832029 : TGAGTCCATT GCAAAAGGTT AAGCCATATG ACAATTTCAA AATGCATGTG : 24832078 *5 : TGAGTCCATT GCAAAAGGTT AAGCCATATG ACAATTTCAA AATGCATGTG : *54 24832079 : ATTGGCAGCT TCAAAACAGA ACGGGTTCTC CCATGGGGGC TCCAGACATT : 24832128 *55 : ATTGGCAGCT TCAAAACAGA ACGGGTTCTC CCATGGGGGC TCCAGACATT : *104 24832129 : GTATTTTACT TTGTGCAATA TGAGGGGACT GCATGCAAGC TCAGGGTGCT : 24832178 *105 : GTATTTTACT TTGTGCAATA TGAGGGGACT GCATGCAAGC TCAGGGTGCT : *154 24832179 : CCCTCCTCAG TCTTTGGGGG ATTCAAATGC ATGATATTGT ATGTACCTGG : 24832228 *155 : CCCTCCTCAG TCTTTGGGGG ATTCAAATGC ATGATATTGT ATGTACCTGG : *204 24832229 : GAAATTTGCC GATTTCCTAA GCTGTTGGAA GGGGGTCACT TAAGGGGGGA : 24832278 *205 : GAAATTTGCC GATTTCCTAA GCTGTTGGAA GGGGGTCACT TAAGGGGGGA : *254 24832279 : TGTCTTGAGA TGTATTATGC AAAGTACCAA CTGAGCCAAA AACAATAAAC : 24832328 *255 : TGTCTTGAGA TGTATTATGC AAAGTACCAA CTGAGCCAAA AACAATAAAC : *304 24832329 : GAAACACAGA ACTCAGCCTT AAGAAAGCTA TATATGAATA ATTATGTTTA : 24832378 *305 : GAAACACAGA ACTCAGCCTT AAGAAAGCTA TATATGAATA ATTATGTTTA : *354 24832379 : CCTCACTGGT GCATTTAAAA TGGACTTTTG TTCATGGGAG AACCTCGTTG : 24832428 *355 : CCTCACTGGT GCATTTAAAA TGGACTTTTG TTCATGGGAG AACCTCGTTG : *404 24832429 : ACATGCACAG TTTGCAATCT TATGTTGATC GATGTTAAAC GTCACAGCAG : 24832478 *405 : ACATGCACAG TTTGCAATCT TATGTTGATC GATGTTAAAC GTCACAGCAG : *454 24832479 : TACTTGCTCA ATAAAGGTCA TATTGGAAAC ATA : 24832511 *455 : TACTTGCTCA ATAAAGGTCA TATTGGAAAC ATA : *487 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:05:43 RefSeq ID NM_005382.2 GI 157738648 Length 3271 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -33 GCTGTGACAG CCACACGCCC CAAGGCCTCC AAGATGAGCT ACACGTTGGA 17 18 CTCGCTGGGC AACCCGTCCG CCTACCGGCG GGTAACCGAG ACCCGCTCGA 67 68 GCTTCAGCCG CGTCAGCGGC TCCCCGTCCA GTGGCTTCCG CTCGCAGTCG 117 118 TGGTCCCGCG GCTCGCCCAG CACCGTGTCC TCCTCCTATA AGCGCAGCAT 167 168 GCTCGCCCCG CGCCTCGCTT ACAGCTCGGC CATGCTCAGC TCCGCCGAGA 217 218 GCAGCCTTGA CTTCAGCCAG TCCTCGTCCC TGCTCAACGG CGGCTCCGGA 267 268 CCCGGCGGCG ACTACAAGCT GTCCCGCTCC AACGAGAAGG AGCAGCTGCA 317 318 GGGGCTGAAC GACCGCTTTG CCGGCTACAT AGAGAAGGTG CACTACCTGG 367 368 AGCAGCAGAA TAAGGAGATT GAGGCGGAGA TCCAGGCGCT GCGGCAGAAG 417 418 CAGGCCTCGC ACGCCCAGCT GGGCGACGCG TACGACCAGG AGATCCGCGA 467 468 GCTGCGCGCC ACCCTGGAGA TGGTGAACCA CGAGAAGGCT CAGGTGCAGC 517 518 TGGACTCGGA CCACCTGGAG GAAGACATCC ACCGGCTCAA GGAGCGCTTT 567 568 GAGGAGGAGG CGCGGTTGCG CGACGACACT GAGGCGGCCA TCCGCGCGCT 617 618 GCGCAAAGAC ATCGAGGAGG CGTCGCTGGT CAAGGTGGAG CTGGACAAGA 667 668 AGGTGCAGTC GCTGCAGGAT GAGGTGGCCT TCCTGCGGAG CAACCACGAG 717 718 GAGGAGGTGG CCGACCTTCT GGCCCAGATC CAGGCATCGC ACATCACGGT 767 768 GGAGCGCAAA GACTACCTGA AGACAGACAT CTCGACGGCG CTGAAGGAAA 817 818 TCCGCTCCCA GCTCGAAAGC CACTCAGACC AGAATATGCA CCAGGCCGAA 867 868 GAGTGGTTCA AATGCCGCTA CGCCAAGCTC ACCGAGGCGG CCGAGCAGAA 917 918 CAAGGAGGCC ATCCGCTCCG CCAAGGAAGA GATCGCCGAG TACCGGCGCC 967 968 AGCTGCAGTC CAAGAGCATC GAGCTAGAGT CGGTGCGCGG CACCAAGGAG 1017 1018 TCCCTGGAGC GGCAGCTCAG CGACATCGAG GAGCGCCACA ACCACGACCT 1067 1068 CAGCAGCTAC CAGGACACCA TCCAGCAGCT GGAAAATGAG CTTCGGGGCA 1117 1118 CAAAGTGGGA AATGGCTCGT CATTTGCGCG AATACCAGGA CCTCCTCAAC 1167 1168 GTCAAGATGG CTCTGGATAT AGAAATCGCT GCGTACAGAA AACTCCTGGA 1217 1218 GGGTGAAGAG ACTAGATTTA GCACATTTGC AGGAAGCATC ACTGGGCCAC 1267 1268 TGTATACACA CCGACCCCCA ATCACAATAT CCAGTAAGAT TCAGAAACCC 1317 1318 AAGGTGGAAG CTCCCAAGCT TAAGGTCCAA CACAAATTTG TCGAGGAGAT 1367 1368 CATAGAGGAA ACCAAAGTGG AGGATGAGAA GTCAGAAATG GAAGAGGCCC 1417 1418 TGACAGCCAT TACAGAGGAA TTGGCCGTTT CCATGAAGGA AGAGAAGAAA 1467 1468 GAAGCAGCAG AAGAAAAGGA AGAGGAACCC GAAGCTGAAG AAGAAGAAGT 1517 1518 AGCTGCCAAA AAGTCTCCAG TGAAAGCAAC TGCACCTGAA GTTAAAGAAG 1567 1568 AGGAAGGGGA AAAGGAGGAA GAAGAAGGCC AGGAAGAAGA GGAGGAAGAA 1617 1618 GATGAGGGAG CTAAGTCAGA CCAAGCCGAA GAGGGAGGAT CCGAGAAGGA 1667 1668 AGGCTCTAGT GAAAAAGAGG AAGGTGAGCA GGAAGAAGGA GAAACAGAAG 1717 1718 CTGAAGCTGA AGGAGAGGAA GCCGAAGCTA AAGAGGAAAA GAAAGTGGAG 1767 1768 GAAAAGAGTG AGGAAGTGGC TACCAAGGAG GAGCTGGTGG CAGATGCCAA 1817 1818 GGTGGAAAAG CCAGAAAAAG CCAAGTCTCC TGTGCCAAAA TCACCAGTGG 1867 1868 AAGAGAAAGG CAAGTCTCCT GTGCCCAAGT CACCAGTGGA AGAGAAAGGC 1917 1918 AAGTCTCCTG TGCCCAAGTC ACCAGTGGAA GAGAAAGGCA AGTCTCCTGT 1967 1968 GCCGAAATCA CCAGTGGAAG AGAAAGGCAA GTCTCCTGTG TCAAAATCAC 2017 2018 CAGTGGAAGA GAAAGCCAAA TCTCCTGTGC CAAAATCACC AGTGGAAGAG 2067 2068 GCAAAGTCAA AAGCAGAAGT GGGGAAAGGT GAACAGAAAG AGGAAGAAGA 2117 2118 AAAGGAAGTC AAGGAAGCTC CCAAGGAAGA GAAGGTAGAG AAAAAGGAAG 2167 2168 AGAAACCAAA GGATGTGCCA GAGAAGAAGA AAGCTGAGTC CCCTGTAAAG 2217 2218 GAGGAAGCTG TGGCAGAGGT GGTCACCATC ACCAAATCGG TAAAGGTGCA 2267 2268 CTTGGAGAAA GAGACCAAAG AAGAGGGGAA GCCACTGCAG CAGGAGAAAG 2317 2318 AGAAGGAGAA AGCGGGAGGA GAGGGAGGAA GTGAGGAGGA AGGGAGTGAT 2367 2368 AAAGGTGCCA AGGGATCCAG GAAGGAAGAC ATAGCTGTCA ATGGGGAGGT 2417 2418 AGAAGGAAAA GAGGAGGTAG AGCAGGAGAC CAAGGAAAAA GGCAGTGGGA 2467 2468 GGGAAGAGGA GAAAGGCGTT GTCACCAATG GCCTAGACTT GAGCCCAGCA 2517 2518 GATGAAAAGA AGGGGGGTGA TAAAAGTGAG GAGAAAGTGG TGGTGACCAA 2567 2568 AACGGTAGAA AAAATCACCA GTGAGGGGGG AGATGGTGCT ACCAAATACA 2617 2618 TCACTAAATC TGTAACCGTC ACTCAAAAGG TTGAAGAGCA TGAAGAGACC 2667 2668 TTTGAGGAGA AACTAGTGTC TACTAAAAAG GTAGAAAAAG TCACTTCACA 2717 2718 CGCCATAGTA AAGGAAGTCA CCCAGAGTGA CTAAGATTTG AGTCCATTGC *16 *17 AAAAGGTTAA GCCATATGAC AATTTCAAAA TGCATGTGAT TGGCAGCTTC *66 *67 AAAACAGAAC GGGTTCTCCC ATGGGGGCTC CAGACATTGT ATTTTACTTT *116 *117 GTGCAATATG AGGGGACTGC ATGCAAGCTC AGGGTGCTCC CTCCTCAGTC *166 *167 TTTGGGGGAT TCAAATGCAT GATATTGTAT GTACCTGGGA AATTTGCCGA *216 *217 TTTCCTAAGC TGTTGGAAGG GGGTCACTTA AGGGGGGATG TCTTGAGATG *266 *267 TATTATGCAA AGTACCAACT GAGCCAAAAA CAATAAACGA AACACAGAAC *316 *317 TCAGCCTTAA GAAAGCTATA TATGAATAAT TATGTTTACC TCACTGGTGC *366 *367 ATTTAAAATG GACTTTTGTT CATGGGAGAA CCTCGTTGAC ATGCACAGTT *416 *417 TGCAATCTTA TGTTGATCGA TGTTAAACGT CACAGCAGTA CTTGCTCAAT *466 *467 AAAGGTCATA TTGGAAACAT A Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:05:43 RefSeq ID NP_005373.2 GI 157738649 Isoelectric Point 4.5796 Molecular Weight 102448 Daltons Length 916 amino acids Download File | Text Sequence 1 MSYTLDSLGN PSAYRRVTET RSSFSRVSGS PSSGFRSQSW SRGSPSTVSS 50 51 SYKRSMLAPR LAYSSAMLSS AESSLDFSQS SSLLNGGSGP GGDYKLSRSN 100 101 EKEQLQGLND RFAGYIEKVH YLEQQNKEIE AEIQALRQKQ ASHAQLGDAY 150 151 DQEIRELRAT LEMVNHEKAQ VQLDSDHLEE DIHRLKERFE EEARLRDDTE 200 201 AAIRALRKDI EEASLVKVEL DKKVQSLQDE VAFLRSNHEE EVADLLAQIQ 250 251 ASHITVERKD YLKTDISTAL KEIRSQLESH SDQNMHQAEE WFKCRYAKLT 300 301 EAAEQNKEAI RSAKEEIAEY RRQLQSKSIE LESVRGTKES LERQLSDIEE 350 351 RHNHDLSSYQ DTIQQLENEL RGTKWEMARH LREYQDLLNV KMALDIEIAA 400 401 YRKLLEGEET RFSTFAGSIT GPLYTHRPPI TISSKIQKPK VEAPKLKVQH 450 451 KFVEEIIEET KVEDEKSEME EALTAITEEL AVSMKEEKKE AAEEKEEEPE 500 501 AEEEEVAAKK SPVKATAPEV KEEEGEKEEE EGQEEEEEED EGAKSDQAEE 550 551 GGSEKEGSSE KEEGEQEEGE TEAEAEGEEA EAKEEKKVEE KSEEVATKEE 600 601 LVADAKVEKP EKAKSPVPKS PVEEKGKSPV PKSPVEEKGK SPVPKSPVEE 650 651 KGKSPVPKSP VEEKGKSPVS KSPVEEKAKS PVPKSPVEEA KSKAEVGKGE 700 701 QKEEEEKEVK EAPKEEKVEK KEEKPKDVPE KKKAESPVKE EAVAEVVTIT 750 751 KSVKVHLEKE TKEEGKPLQQ EKEKEKAGGE GGSEEEGSDK GAKGSRKEDI 800 801 AVNGEVEGKE EVEQETKEKG SGREEEKGVV TNGLDLSPAD EKKGGDKSEE 850 851 KVVVTKTVEK ITSEGGDGAT KYITKSVTVT QKVEEHEETF EEKLVSTKKV 900 901 EKVTSHAIVK EVTQSD Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 101 1A 102 136 L1 137 146 1B 147 247 L12 248 264 2A 265 283 L2 284 291 2B 292 412 Tail 413 916 Back to top

MONOCLONAL ANTIBODIES
Information last updated on 2008-01-04 10:30:55 Clone Name Species Reported Specificity Epitope Reference 3H11 mouse NF-M - Harris et al, 1991 NF-09 mouse NF-M - Dráberová et al, 1999 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 38041. Information last updated on 2007-08-17 12:27:04 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 396206 XM_417680.2 XP_417680.2 Vertebrates Rattus norvegicus 24588 NM_017029.1 NP_058725.1 Rodents Mus musculus 18040 NM_008691.2 NP_032717.1 Rodents Pan troglodytes 745196 XM_001150727.1 XP_001150727.1 Primates Canis familiaris 486111 XM_543237.2 XP_543237.2 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 2007-05-21 10:45:36 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Amyotrophic lateral sclerosis 1 ALS1 #105400 Parkinson disease PD #168600 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 2007-05-21 10:45:36 * 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. ID DNA Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference 9199 c.104T>A Substitution p.Phe35Tyr Substitution Head ALS1* Garcia et al, 2006 9200 c.837C>A Substitution p.Ser279Arg Substitution 2A ALS1* Garcia et al, 2006 9414 c.1006G>A Substitution p.Gly336Ser Substitution 2B PD Lavedan et al, 2002 9201 c.1423G>A Substitution p.Ala475Thr Substitution Tail ALS1* Garcia et al, 2006 9202 c.2089G>C Substitution p.Gly697Arg Substitution Tail ALS1* Garcia et al, 2006 9287 c.2153T>C Substitution p.Val718Ala Substitution Tail ALS1* Garcia et al, 2006 9203 c.2263G>T Substitution p.Val755Leu Substitution Tail ALS1* Garcia et al, 2006 9204 c.2572G>A Substitution p.Val858Ile Substitution Tail ALS1* Garcia et al, 2006 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 8699 c.387T>G Substitution p.Ile129Met Substitution 1A - - Vechio et al, 1996 9049 c.447G>C Substitution p.= Silent Not affected German - Krüger et al, 2003 8700 c.1104T>C Substitution p.= Silent Not affected - - Vechio et al, 1996 9565 c.1420A>G Substitution p.Thr474Ala Substitution Tail - - Vechio et al, 1996 9217 c.1423G>A Substitution p.Ala475Thr Substitution Tail German - Krüger et al, 2003 9218 c.2089G>C Substitution p.Gly697Arg Substitution Tail German - Krüger et al, 2003 9219 c.2174C>A Substitution p.Pro725Gln Substitution Tail German - Krüger et al, 2003 9313 c.2485_2487delGTT Deletion p.Val829del Deletion Tail German - Krüger et al, 2003 Back to top