Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:59:46 * 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 2q35 Chromosome Strand + Chromosome GI 51511462 Chromosome RefSeq ID NC_000002.9 220108604 : GTCTCCCCTC GCCGCATCCA CTCTCCGGCC GGCCGCCTGC CCGCCGCCTC : 220108653 -86 : GTCTCCCCTC GCCGCATCCA CTCTCCGGCC GGCCGCCTGC CCGCCGCCTC : -37 VARIANTS : T : VARIANTS 220108654 : CTCCGTGCGC CCGCCAGCCT CGCCCGCGCC GTCACCATGA GCCAGGCCTA : 220108703 -36 : CTCCGTGCGC CCGCCAGCCT CGCCCGCGCC GTCACCATGA GCCAGGCCTA : 14 1 : M S Q A Y : 5 VARIANTS : I : VARIANTS VARIANTS : T T : VARIANTS 220108704 : CTCGTCCAGC CAGCGCGTGT CCTCCTACCG CCGCACCTTC GGCGGGGCCC : 220108753 15 : CTCGTCCAGC CAGCGCGTGT CCTCCTACCG CCGCACCTTC GGCGGGGCCC : 64 6 : S S S Q R V S S Y R R T F G G A : 21 VARIANTS : F C : VARIANTS 220108754 : CGGGCTTCCC ACTCGGCTCC CCGCTGAGTT CGCCCGTGTT CCCGCGGGCG : 220108803 65 : CGGGCTTCCC ACTCGGCTCC CCGCTGAGTT CGCCCGTGTT CCCGCGGGCG : 114 22 : P G F P L G S P L S S P V F P R A : 38 VARIANTS : T : VARIANTS VARIANTS : A : VARIANTS 220108804 : GGTTTCGGCT CTAAGGGCTC CTCCAGCTCG GTGACGTCCC GCGTGTACCA : 220108853 115 : GGTTTCGGCT CTAAGGGCTC CTCCAGCTCG GTGACGTCCC GCGTGTACCA : 164 39 : G F G S K G S S S S V T S R V Y Q : 55 VARIANTS : Y : VARIANTS VARIANTS : F : VARIANTS 220108854 : GGTGTCGCGC ACGTCGGGCG GGGCCGGGGG CCTGGGGTCG CTGCGGGCCA : 220108903 165 : GGTGTCGCGC ACGTCGGGCG GGGCCGGGGG CCTGGGGTCG CTGCGGGCCA : 214 56 : V S R T S G G A G G L G S L R A : 71 220108904 : GCCGGCTGGG GACCACCCGC ACGCCCTCCT CCTACGGCGC AGGCGAGCTG : 220108953 215 : GCCGGCTGGG GACCACCCGC ACGCCCTCCT CCTACGGCGC AGGCGAGCTG : 264 72 : S R L G T T R T P S S Y G A G E L : 88 220108954 : CTGGACTTCT CACTGGCCGA CGCGGTGAAC CAGGAGTTTC TGACCACGCG : 220109003 265 : CTGGACTTCT CACTGGCCGA CGCGGTGAAC CAGGAGTTTC TGACCACGCG : 314 89 : L D F S L A D A V N Q E F L T T R : 105 VARIANTS : A : VARIANTS 220109004 : CACCAACGAG AAGGTGGAGC TGCAGGAGCT CAATGACCGC TTCGCCAACT : 220109053 315 : CACCAACGAG AAGGTGGAGC TGCAGGAGCT CAATGACCGC TTCGCCAACT : 364 106 : T N E K V E L Q E L N D R F A N : 121 VARIANTS : K : VARIANTS 220109054 : ACATCGAGAA GGTGCGCTTC CTGGAGCAGC AGAACGCGGC GCTCGCCGCC : 220109103 365 : ACATCGAGAA GGTGCGCTTC CTGGAGCAGC AGAACGCGGC GCTCGCCGCC : 414 122 : Y I E K V R F L E Q Q N A A L A A : 138 220109104 : GAAGTGAACC GGCTCAAGGG CCGCGAGCCG ACGCGAGTGG CCGAGCTCTA : 220109153 415 : GAAGTGAACC GGCTCAAGGG CCGCGAGCCG ACGCGAGTGG CCGAGCTCTA : 464 139 : E V N R L K G R E P T R V A E L Y : 155 220109154 : CGAGGAGGAG CTGCGGGAGC TGCGGCGCCA GGTGGAGGTG CTCACTAACC : 220109203 465 : CGAGGAGGAG CTGCGGGAGC TGCGGCGCCA GGTGGAGGTG CTCACTAACC : 514 156 : E E E L R E L R R Q V E V L T N : 171 VARIANTS : dddddddd dddddddddd ddd : VARIANTS 220109204 : AGCGCGCGCG CGTCGACGTC GAGCGCGACA ACCTGCTCGA CGACCTGCAG : 220109253 515 : AGCGCGCGCG CGTCGACGTC GAGCGCGACA ACCTGCTCGA CGACCTGCAG : 564 172 : Q R A R V D V E R D N L L D D L Q : 188 VARIANTS : ddddddd dddddddddd dd : VARIANTS 220109254 : CGGCTCAAGG CCAAGTGAGG GCCCGGCACC CCAGACTCCT CTTTCTGCGG : 220109303 565 : CGGCTCAAGG CCAA : 578 189 : R L K A K : 193 220109304 : GCAGGGCACA GGAGGCTAGG CCTGGGGTCT GGGGTCCCGC TGTCAGCACC : 220109353 220109354 : TGCCTTCTCC CGGGGCCCGG GACCCTCTCC TGCCCCATGT GGAGAAAGGG : 220109403 220109404 : TCCTCCACCT GTGTGTTTCA AGGGGCCGTG ACCTCCAGGT CTCTCCCCCT : 220109453 220109454 : GCGATCCCAT CTTGCACAGG AGTTTTCTTG GGGACATAGA TCAGGGGGTG : 220109503 220109504 : GATATGGGAG AATTTAGGGG ACCCGGTGCC CTGTGGACAG CCCCGTTAAA : 220109553 220109554 : AAGCATTTTA AGATGCTGGG GCGATATTTA TGGGGTCAGG TAGTTGATGG : 220109603 220109604 : GCAGAGGAAG GGCTGCAGGA GGCCCAGAGG GCAGTGTAGC CAGAGGGAGA : 220109653 220109654 : AGGGAGGCTG ATAGGAGACA GGGAAAGCAG GGCAAGGGCC CAGAGTCCAA : 220109703 220109704 : GCAACAGCTC TCAGCTCAGC TGTGATGAGG CCCTGGGGGA GGTGGGGGGA : 220109753 220109754 : GGGGGGAGCT TGGCCCTGGG GCCTTGCCGA GACTGTGTCT TTTTACAAGG : 220109803 220109804 : TGAATGGACA GGCTGGAGAA AAAGGGAGTA GGTGGGGGTC ACAGCTCTCA : 220109853 220109854 : GAGAGCTTGG GAGGACCTGA CTGTAGACTT CACCAGGCTC CAAGAACGAA : 220109903 220109904 : AAGGGCAGCA AGTGTAGCAT ATTTGTTGGT CCCACTTCTG ACAGGCCAAG : 220109953 220109954 : TGAGCACAGT CACCCTCCTG CCACCAAAGT CATAAATATT AATTGAGCAG : 220110003 220110004 : CTATATTGGC CAGGCTGGAG CTGGGAACCA GAAACACAGA GGTGGATAAA : 220110053 220110054 : ATAGACACAG TTTCTAACCC CAGGGAGGTC ACACAGTCTG GTGGGGACAT : 220110103 220110104 : AGACTTCAAG GGTGTGGCTC CTGGGCAGAG ATTGGGCCAC TTCCTGTGCC : 220110153 220110154 : CTCCCTGGGT GGGTGGGGCC TCTCCACTCC CTGTCTCTCC TGCCTCTACC : 220110203 220110204 : CAGCAGCCAG GCCCTCCCGC TCTGTCCTGG ACCCACCCCC TGGTCAGCCC : 220110253 220110254 : CCGGCCAGTC GTTTCCACTG CCAGCTTTAT CACCCGCAAC TGTCTGTCTT : 220110303 220110304 : TCTGTCTGTC CCACCCAGGC TGCAGGAGGA GATTCAGTTG AAGGAAGAAG : 220110353 579 : GC TGCAGGAGGA GATTCAGTTG AAGGAAGAAG : 610 194 : L Q E E I Q L K E E : 203 VARIANTS : T : VARIANTS 220110354 : CAGAGAACAA TTTGGCTGCC TTCCGAGCGG TGAGTGCCCT TCTTTTCCCC : 220110403 611 : CAGAGAACAA TTTGGCTGCC TTCCGAGCG : 639 204 : A E N N L A A F R A : 213 VARIANTS : V : VARIANTS 220110404 : TTGCATGGCC TCTGGCCTTG CTCTGCCCCA CCTGGGTGGC GGTGACCATG : 220110453 VARIANTS : GA : VARIANTS 220110454 : TCCTTCTCGC TTGGCCTCTC CCAGGACGTG GATGCAGCTA CTCTAGCTCG : 220110503 640 : GACGTG GATGCAGCTA CTCTAGCTCG : 665 214 : D V D A A T L A R : 222 VARIANTS : ddddd dddddddddd dddddddddd : VARIANTS VARIANTS : ddddd dddddddddd dddddddddd : VARIANTS VARIANTS : ddddd dddddddddd dddddddddd : VARIANTS 220110504 : CATTGACCTG GAGCGCAGAA TTGAATCTCT CAACGAGGAG ATCGCGTTCC : 220110553 666 : CATTGACCTG GAGCGCAGAA TTGAATCTCT CAACGAGGAG ATCGCGTTCC : 715 223 : I D L E R R I E S L N E E I A F : 238 VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS VARIANTS : C G : VARIANTS VARIANTS : ii C ddddddddd d : VARIANTS 220110554 : TTAAGAAAGT GCATGAAGAG GTATACCTTG GCCCCTCTTC CTGGGGTCAC : 220110603 716 : TTAAGAAAGT GCATGAAGAG : 735 239 : L K K V H E E : 245 VARIANTS : f D : VARIANTS VARIANTS : D : VARIANTS VARIANTS : dddddddddd ddddddddd : VARIANTS VARIANTS : dddddddddd ddddddddd : VARIANTS VARIANTS : dddddddddd ddddddddd : VARIANTS 220110604 : TGGGCCATGG GGAAAGCAGC CGGAAAGTGG GGTTGGGGTG AGGCTCTGGC : 220110653 220110654 : TGGGAATAGG GGTGTGAGGG TGCTGTGTGG GCCCTGAGAG GGGACTGAAG : 220110703 220110704 : CCCAGTCATG CCCTACAGGA GATCCGTGAG TTGCAGGCTC AGCTTCAGGA : 220110753 736 : GA GATCCGTGAG TTGCAGGCTC AGCTTCAGGA : 767 246 : E I R E L Q A Q L Q E : 256 220110754 : ACAGCAGGTC CAGGTGGAGA TGGACATGTC TAAGCCAGAC CTCACTGCCG : 220110803 768 : ACAGCAGGTC CAGGTGGAGA TGGACATGTC TAAGCCAGAC CTCACTGCCG : 817 257 : Q Q V Q V E M D M S K P D L T A : 272 220110804 : CCCTCAGGGA CATCCGGGCT CAGTATGAGA CCATCGCGGC TAAGAACATT : 220110853 818 : CCCTCAGGGA CATCCGGGCT CAGTATGAGA CCATCGCGGC TAAGAACATT : 867 273 : A L R D I R A Q Y E T I A A K N I : 289 VARIANTS : T : VARIANTS 220110854 : TCTGAAGCTG AGGAGTGGTA CAAGTCGAAG GTGGGTGGCC TCGCCCGGGG : 220110903 868 : TCTGAAGCTG AGGAGTGGTA CAAGTCGAAG : 897 290 : S E A E E W Y K S K : 299 VARIANTS : L : VARIANTS 220110904 : ACTGGCATCT CCGTCCCCCT GAATCCCAGC TTGGATGTGC TGCCTGTGGT : 220110953 220110954 : ACCATCCATG GGAGGAGAGC CCAGAGGCTT CATGCTCCCT TGCTCATCCC : 220111003 220111004 : TACCCGTGCC CTGCATCCTT CTCATTTTTG GGCCCCTTTC TCTGCCCTTA : 220111053 VARIANTS : A : VARIANTS 220111054 : GGTGTCAGAC CTGACCCAGG CAGCCAACAA GAACAACGAC GCCCTGCGCC : 220111103 898 : GTGTCAGAC CTGACCCAGG CAGCCAACAA GAACAACGAC GCCCTGCGCC : 946 300 : V S D L T Q A A N K N N D A L R : 315 VARIANTS : N : VARIANTS 220111104 : AGGCCAAGCA GGAGATGATG GAATACCGAC ACCAGATCCA GTCCTACACC : 220111153 947 : AGGCCAAGCA GGAGATGATG GAATACCGAC ACCAGATCCA GTCCTACACC : 996 316 : Q A K Q E M M E Y R H Q I Q S Y T : 332 VARIANTS : C G : VARIANTS 220111154 : TGCGAGATTG ACGCCCTGAA GGGCACTGTG AGTCCCTGCC CACCTGGCCA : 220111203 997 : TGCGAGATTG ACGCCCTGAA GGGCACT : 1023 333 : C E I D A L K G T : 341 VARIANTS : P R : VARIANTS 220111204 : GGCCCTGCCC CTTCCTGTCT GCAGTTCACA CCCTCACTTT GTGACCTTGG : 220111253 220111254 : GCCCATCATA GATCCTCTCT GGGCCTTCAT CTACTTAAAT CTACAATAGG : 220111303 220111304 : GGTAAAACCA GACAAGTGGA TTCCAGTTGG ATGCTAAGGA ATCAGGGGTT : 220111353 220111354 : CCTGGGCATC TACCTATGTG GGGACTGTGA GGCTGAATGC AATGTTCCTT : 220111403 220111404 : TGTATCTATT TTATTCTGAG TGTTCACATA TAGACTTAAT TTGAGTTCAG : 220111453 220111454 : GGTTCAACAT GGCCTGGACC TGACCATCTG GAGTTGCCTG CCAGCCCCAA : 220111503 220111504 : AGCTTTCTTT GGGCTGCTAG TGTCCTCTTC CCTTCCTTGA CCTGGGTTCC : 220111553 VARIANTS : G C TC : VARIANTS 220111554 : CCCTCTCCTG CAGAACGATT CCCTGATGAG GCAGATGCGG GAATTGGAGG : 220111603 1024 : AACGATT CCCTGATGAG GCAGATGCGG GAATTGGAGG : 1060 342 : N D S L M R Q M R E L E : 353 VARIANTS : D P W : VARIANTS VARIANTS : P : VARIANTS VARIANTS : C : VARIANTS VARIANTS : C C dddddd ddd dddT C : VARIANTS 220111604 : ACCGATTTGC CAGTGAGGCC AGTGGCTACC AGGACAACAT TGCGCGCCTG : 220111653 1061 : ACCGATTTGC CAGTGAGGCC AGTGGCTACC AGGACAACAT TGCGCGCCTG : 1110 354 : D R F A S E A S G Y Q D N I A R L : 370 VARIANTS : P P ddddd dd d F P : VARIANTS VARIANTS : P : VARIANTS VARIANTS : T C : VARIANTS 220111654 : GAGGAGGAAA TCCGGCACCT CAAGGATGAG ATGGCCCGCC ATCTGCGCGA : 220111703 1111 : GAGGAGGAAA TCCGGCACCT CAAGGATGAG ATGGCCCGCC ATCTGCGCGA : 1160 371 : E E E I R H L K D E M A R H L R E : 387 VARIANTS : P : VARIANTS VARIANTS : C C T T A : VARIANTS 220111704 : GTACCAGGAC CTGCTCAACG TGAAGATGGC CCTGGATGTG GAGATTGCCA : 220111753 1161 : GTACCAGGAC CTGCTCAACG TGAAGATGGC CCTGGATGTG GAGATTGCCA : 1210 388 : Y Q D L L N V K M A L D V E I A : 403 VARIANTS : P P I Y K : VARIANTS VARIANTS : T A : VARIANTS 220111754 : CCTACCGGAA GCTGCTGGAG GGAGAGGAGA GCCGGTGAGG GGCCAGGCAG : 220111803 1211 : CCTACCGGAA GCTGCTGGAG GGAGAGGAGA GCCG : 1244 404 : T Y R K L L E G E E S R : 415 VARIANTS : W K : VARIANTS VARIANTS : W : VARIANTS 220111804 : GAGCCCGAGT GGGAGGTGCG GGGTGCTGGG TGGTCCATTT CTGTCCCCAG : 220111853 220111854 : GAGGCTCGAG ATTACTGATT ACCTCAACAA GACCTGGAAA CAATTTTTTT : 220111903 220111904 : TTTTTTTGAG ATGGAGTTTC GCTCTTGTCG CCCAGTCTGG AGTGCAATGG : 220111953 220111954 : CACCATCTTG GCTCACTGCA ACCTCCGCCT CCTGGGTTCA AGCAATTCTC : 220112003 220112004 : CTGCCTCAGC TTCCCGAGCA GCTGGGATTA CAGGCGCCTA CCACCACGCC : 220112053 220112054 : TGGCTAATTT TTGTATTTTT AGTAGAGACG GGGTTTCACT ATGTTGGGCA : 220112103 220112104 : GCTGGTCTCG AACTCCTGAC CTCAGGTGAT CTGCCTACCT CAGCCTCCCA : 220112153 220112154 : AAGTACTGGG ATTACAGGCG TGAGCCACCG CACCCGGCGT GGAAACAATT : 220112203 220112204 : TTATACAAGA GGCCACTGCT CTATTAATTG CAGAGAATTA ACCAAGGCCA : 220112253 220112254 : CCTGGGTAAA AAGCAATTTA ATTAACAGCA TTTATAAAAA GAGAAATATA : 220112303 220112304 : AGTATTCCCT TATCCACCTT CAGAATTAAG AACCAGCAGC AAAAAAAACC : 220112353 220112354 : ATATTCAGCA ACCAATAATA AAATATTACT GCCAGTCAAG GGAGAGATGA : 220112403 220112404 : AAGCAGAATG GGGAGTGATG AGGAGGGAAA CGGAGGGAGC AGATAGAGGC : 220112453 220112454 : AAATAGAGAG AGGGAGGGAG AGAAGCCTTG CACAGGGATA GGCTAAGAGA : 220112503 220112504 : AGGTAAAGAG ATGCATACAG AAGGCATGAG TTTGCACACA CATGCACACA : 220112553 220112554 : TGTCAGCATA TGCACATGTT CGGAGGAAAA GACACAGACG TCATGCTCAG : 220112603 220112604 : AGCAACCCAC CTCTAGACAC AGAAAACAAC ATACAACTGG AAAGGGACAC : 220112653 220112654 : CAGGGAACCT TGTGGGATAA CAGAAATGTT CTATATCTTT TTTTTTTTTT : 220112703 220112704 : TTTTTTGAGA CAGAGTCTTG CTCTGTCACC CAGGCTGGAG TGCAGTGGTG : 220112753 220112754 : TGATCTCAGC TCACTGCAAC CTCTGCCTCC CAGGCTCAAG CGGTTCTCCT : 220112803 220112804 : GTCTCAGCCT CCCTAGTAGC TGGGATTACA GGCGTGTGCC AACACACTCA : 220112853 220112854 : GCTGATTTTT TGTATTTTTA GTAGAGATGA GGTTTCACCA TGTTGGTCAG : 220112903 220112904 : GCTGGACTCT AACTCCTGAC CTCAAGTAAT TCGCCTGCCT CAGCCTCCCA : 220112953 220112954 : AAGTGCTGGG ATTATAGGCA TGAGCCACTG TGCCTGGCCT AGAAATGTTC : 220113003 220113004 : TATATCTTGA TTTGGACTGG TAGTTACACA GACGTGGACA TTGATCAAAA : 220113053 220113054 : CTCATTGAAT TGTACATTAA AGATCTGTGC ATTTCACTGT ATGTAAATTT : 220113103 220113104 : AACCTCAATT TAAAACAGAT CAGTTACTCC AAAAACTGGT ACCCCTTGAT : 220113153 220113154 : ACTCATAAAA ATAATATCTG AAATTTTTAA AAAGGAGCAG ACATGTTTAG : 220113203 220113204 : ATACAGGTAC AAACATAAAG AGAAACTTCA GATTTTGTAA AATCACGTCT : 220113253 220113254 : ACATATGATG GCCTTTGAAG GTAGCTAAAG GCATGTTGCA TTTTCCCAGC : 220113303 220113304 : ATTAGGCCTA AATAGTAAGC TCTCAGAACT GGCCTGGCTG GAGGGTGGGC : 220113353 220113354 : ATGAGCAATG GATATCACCC ACAGCTGCTA CTAGTACCAA CTTCAGTGCC : 220113403 220113404 : AGGAGCAAGA AGGAAATCCT GGTGCTCTGG AGGGCGCGGT GGGGTTGCAC : 220113453 220113454 : ATCCTAGTGT CGTGCCAGCA GTTCACAGTT GAAATAATGA TCCTTCCAGA : 220113503 220113504 : AGAGACTATT CCTGGGACAG CTCTAGCTGG CCTTCGACCC CATTCCTTGA : 220113553 220113554 : GCAGTATGGG TGGTGGGAGT GCTGGGGTCC GTGGGACTGG GACAGCTGAG : 220113603 220113604 : GATGGTGTTT AGAAAGGACC AGGGTGAGCC TTGATGGGCG GTCTCAGGGA : 220113653 220113654 : AAGATGGGAG GGTTCTTTTT TTTTTTTTTT TGAGACAGGG TCTTGTTCTG : 220113703 220113704 : TCCCCCAGGC TGGAGTGCAG TGGTGCAATC TCCGCTCACT GCAAGCTCCA : 220113753 220113754 : CCTCCTGGGT TCGCACCATT CTCCTGCCTC ACCCTCCTGA GTATCTGGAA : 220113803 220113804 : CTACAGGTGC CCGCCACCAT GCCCGGCTAA TTTTTTGTAT TTTTAGTAGA : 220113853 220113854 : GACGGGGTTT CACTGTGTTA GCCAGGATGG TCTCGATCTC CTGACCTGGT : 220113903 220113904 : GATCCGCCCG CCTCGGCCTT TCAAAGTGCT GGGATTACAG CTGGGCCCGG : 220113953 220113954 : CCGATGGGAG GGTTCTTAAC TCTTAGGAGG TTTTGTCTCT TCCCTTTTAG : 220114003 VARIANTS : T : VARIANTS 220114004 : GATCAATCTC CCCATCCAGA CCTACTCTGC CCTCAACTTC CGAGGTGAGT : 220114053 1245 : GATCAATCTC CCCATCCAGA CCTACTCTGC CCTCAACTTC CGAG : 1288 416 : I N L P I Q T Y S A L N F R : 429 VARIANTS : S : VARIANTS 220114054 : GTCTGCTGGC AGGCGGAGGC TGGAGTTGCA GGGGCCAGGA GTCCAGCATG : 220114103 220114104 : GGCACTGCCC AAGGCCAGCC AGGAGGGAGG ATGGGACCCT GGGGCTAGGG : 220114153 220114154 : ACAGACCTGG AGTCTGGGGA AGAAAAAGGG GACCACTGCG GGTAGGTGGG : 220114203 220114204 : GGAGTTTAGG TAGAGGTGGA TGAGGCAACT TATGACAGAG AGAGCTTTTT : 220114253 220114254 : ATGTGATTAT ATTGTATTGT ATTTACCATG TCCCCTGCAC CTTCTTGGAG : 220114303 220114304 : TATTGGGCCT CAGGAAGCAG CCTCTGTTCT GAATCCCAAA CTCTGAAAGC : 220114353 220114354 : AGGAGTGTCC TTGGGGACCT GGCTTCAGGA GCATCTCATA CCACCTGCCC : 220114403 220114404 : TCTAAGACAC CCACAGCCCA TTGTCTGTTT GGCACATTGC CAAGCCCCAC : 220114453 220114454 : CTTGGCTGCT TGTCGAACAC CTCCAGTTTG CTGGAGCAAG ATGTTGGATG : 220114503 220114504 : CACGTTTGGA AAAAAATGCC AAATCTTAGC AAAGCCAAAC AATGAAAAGA : 220114553 220114554 : ACGAGCTCTT AGGGCACTCT GCCATTTTGA CATTAGTAAT ACGCAGATCG : 220114603 220114604 : GGTGGCTTTC CAACCCCAGA GAGCAGAGAA ACACACGATA ATGATGCATT : 220114653 220114654 : AGGAAAGCAA GTCGGAGTCC TTGGCAGCTT CTCCTTTCCT AGATCAAACC : 220114703 220114704 : TTTTCTATCT TCGATGTACA TTTCCATCAG GAAAAAAAAC ACGCTGCGCT : 220114753 220114754 : CCAGCGAGTC ACAACATTCA TCACAGGCTG GTTGCTAGCT AAGGAAATTC : 220114803 220114804 : GTAAGCACCA AACTCATAAT ACCAAGGACC TCCATTTGAC CTTTCCTACA : 220114853 220114854 : CAACTCAGAG CCTCTCTTTT CAGTTAGTTG TTTATACAGA CACCAAGTAT : 220114903 220114904 : GAGTCTTGCA TTTAAAACTT CATAGTACAA AAAACTCCAC CCACATTGCA : 220114953 220114954 : CAGTGCTTTT CCAAATCAAT AGCTTTGTGG CCATGATAAG GTTGGTACCA : 220115003 220115004 : CTTCACTCCG TGTCCTCAGT GAGGAAACTG AGGCACAGAA TGGCAAGTGA : 220115053 220115054 : CTGAGCATCA GCACAATGAG TCAGTGCCTT ATTCCTGCTC TGTCTCACTT : 220115103 220115104 : TAAGACATCA AGTTGCTCAT CTGAATTTTT TTTTTCTTTT GAAACGGAGT : 220115153 220115154 : CTCGCTCTGT CGCCCAGGCT GGAGTGCAGT GGTGCAATCT CGGCTCACCG : 220115203 220115204 : CAACCTCCGC CTCCCAGGTT CAAGCAATTC TCCTGCCTCA GCCTCCTGAG : 220115253 220115254 : TAGCTGGGAT TACAGGCATG TGCCACCACG CCCCCCTAAT TTTTGTATTT : 220115303 220115304 : TTAGTAGAGA CGGGGTTTCA CCATGTTGGT CAGGGTGGTC TGGAACTCCT : 220115353 220115354 : GGCCTCATGA TCCACCTGCC TCGGTCTCCC AAACTACTGG GATTACAGAT : 220115403 220115404 : GTGAGCCACC GCACCTGGCC CTGAAATCTT AAAGGGAGAT AGGTACTGTA : 220115453 220115454 : AGGTCCTCTA AAGAGTGTCT TGAGACTGGG CTTTGGGGTT CTATCTTGAA : 220115503 220115504 : GAAGGGGAGT CCCAGGAGAC AAATGTGTGC AGGGCTCTCC TGGGGCCTGG : 220115553 220115554 : GGGTGGAGAG GAACTAGGAG GGATGGGGAA TGTCAGTGCT GTGCAGCCTG : 220115603 220115604 : GGCCTCAGGT GTCCCCTACC CTCCTGCACC ATCCTGCACA TGGAGCAAAT : 220115653 220115654 : CTGTTGGCTC CTGAGACCAT CTAAACTATG GGACAGGCGC TGGGGACTGC : 220115703 220115704 : AGAACCACCT GCTGGGTGCT GGGCTGAAGG AAAGGTGTTA AAGTCTTGAA : 220115753 220115754 : GAAGTAACAA GCCTGTCTTG AGGGGGGTTG GGGTCTGCTA GGGCTCTGCC : 220115803 220115804 : CAATGTGGCC CCAGATGGAC TCCCAGCCCC TGGTATAGCC CAGCCTGGAC : 220115853 220115854 : TTGGTCAGGC TGAGTGTGCG ATGGACCCTG TTACAGAAAC CAGCCCTGAG : 220115903 1289 : AAAC CAGCCCTGAG : 1302 430 : E T S P E : 434 VARIANTS : T C : VARIANTS 220115904 : CAAAGGGGTT CTGAGGTCCA TACCAAGAAG ACGGTGATGA TCAAGACCAT : 220115953 1303 : CAAAGGGGTT CTGAGGTCCA TACCAAGAAG ACGGTGATGA TCAAGACCAT : 1352 435 : Q R G S E V H T K K T V M I K T I : 451 VARIANTS : I T M : VARIANTS VARIANTS : G T T : VARIANTS 220115954 : CGAGACACGG GATGGGGAGG TAAGTGGTCT GTCTGGGCTC CTTACCCTTG : 220116003 1353 : CGAGACACGG GATGGGGAG : 1371 452 : E T R D G E : 457 VARIANTS : I W : VARIANTS 220116004 : GTGGGGGCTA TGGATGTGTC TGGGGGGACT GTCTTCCACC CAGCTGTGCT : 220116053 220116054 : GGTCTAGGTC CCTGGCTAGT GGGGCAAGAG AGATCCTGCG GCCCTGGGGT : 220116103 220116104 : GGGGATGGCT CAGGGCTGAG GCTCCATTCT CTGGCTAGCA CATGGTTGGA : 220116153 VARIANTS : A T : VARIANTS 220116154 : CTGGGCTTCT CTTCCTCCCC AGGTCGTCAG TGAGGCCACA CAGCAGCAGC : 220116203 1372 : GTCGTCAG TGAGGCCACA CAGCAGCAGC : 1399 458 : V V S E A T Q Q Q : 466 VARIANTS : I I : VARIANTS VARIANTS : A : VARIANTS 220116204 : ATGAAGTGCT CTAAAGACAG AGACCCTCTG CCACCAGAGA CCGTCCTCAC : 220116253 1400 : ATGAAGTGCT CTAAAGACAG AGACCCTCTG CCACCAGAGA CCGTCCTCAC : *36 467 : H E V L : 470 VARIANTS : M : VARIANTS 220116254 : CCCTGTCCTC ACTGCTCCCT GAAGCCAGCC TTCTTCCATC CCAGGACACC : 220116303 *37 : CCCTGTCCTC ACTGCTCCCT GAAGCCAGCC TTCTTCCATC CCAGGACACC : *86 220116304 : ACACCCAGCC TCAGTCCTCC CCTCACAGCC TCTGACCCCT CCTCACTGGC : 220116353 *87 : ACACCCAGCC TCAGTCCTCC CCTCACAGCC TCTGACCCCT CCTCACTGGC : *136 220116354 : CATCCCTCGT GGTCCCCAAC AGCGACATAG CCCATCCCTG CCTGGTCACA : 220116403 *137 : CATCCCTCGT GGTCCCCAAC AGCGACATAG CCCATCCCTG CCTGGTCACA : *186 220116404 : GGGCATGCCC CGGCCACCTC TGCGGACCCC AGCTGTGAGC CTTGGCTGTT : 220116453 *187 : GGGCATGCCC CGGCCACCTC TGCGGACCCC AGCTGTGAGC CTTGGCTGTT : *236 220116454 : GGCAGTGAGT GAGCCTGGCT CTTGTGCTGG ATGGAGCCCA GGCGGGAGCG : 220116503 *237 : GGCAGTGAGT GAGCCTGGCT CTTGTGCTGG ATGGAGCCCA GGCGGGAGCG : *286 220116504 : GTGGCCCTGT CCCTCCCACC TCTGTGACCT CAGGCACTAG CCTTTGGCTC : 220116553 *287 : GTGGCCCTGT CCCTCCCACC TCTGTGACCT CAGGCACTAG CCTTTGGCTC : *336 220116554 : TGGAGACAGC CCCAGAGCAG GGTGTTGGGA TACTGCAGGG CCAGGACTGA : 220116603 *337 : TGGAGACAGC CCCAGAGCAG GGTGTTGGGA TACTGCAGGG CCAGGACTGA : *386 220116604 : GCCCCGCAGA CCTCCCCAGC CCCTAGCCCA GGAGAGAGAA AGCCAGGCAG : 220116653 *387 : GCCCCGCAGA CCTCCCCAGC CCCTAGCCCA GGAGAGAGAA AGCCAGGCAG : *436 220116654 : GTAGCCAGGG GGACTAGCCC CTGTGGAGAC TGGGGGGCTT GAAATTGTCC : 220116703 *437 : GTAGCCAGGG GGACTAGCCC CTGTGGAGAC TGGGGGGCTT GAAATTGTCC : *486 220116704 : CCGTGGTCTC TTACTTTCCT TTCCCCAGCC CAGGGTGGAC TTAGAAAGCA : 220116753 *487 : CCGTGGTCTC TTACTTTCCT TTCCCCAGCC CAGGGTGGAC TTAGAAAGCA : *536 220116754 : GGGGCTACAA GAGGGAATCC CCGAAGGTGC TGGAGGTGGG AGCAGGAGAT : 220116803 *537 : GGGGCTACAA GAGGGAATCC CCGAAGGTGC TGGAGGTGGG AGCAGGAGAT : *586 220116804 : TGAGAAGGAG AGAAAGTGGG TGAGATGCTG GAGAAGAGAG GAGAGGAGAG : 220116853 *587 : TGAGAAGGAG AGAAAGTGGG TGAGATGCTG GAGAAGAGAG GAGAGGAGAG : *636 220116854 : AGGCAGAGAG CGGTCTCAGG CTGGTGGGAG GGGCGCCCAC CTCCCCACGC : 220116903 *637 : AGGCAGAGAG CGGTCTCAGG CTGGTGGGAG GGGCGCCCAC CTCCCCACGC : *686 220116904 : CCTCCCCTCC CCTGCTGCAG GGGCTCTGGA GAGAAACAAT AAAGAGATTC : 220116953 *687 : CCTCCCCTCC CCTGCTGCAG GGGCTCTGGA GAGAAACAAT AAAGAGATTC : *736 220116954 : ACACACAAGC CAA------- ---------- --- : 220116966 *737 : ACACACAAGC CAAAAAAAAA AAAAAAAAAA AAA : *769 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:59:46 RefSeq ID NM_001927.3 GI 55749931 Length 2268 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -86 GTCTCCCCTC GCCGCATCCA CTCTCCGGCC GGCCGCCTGC CCGCCGCCTC -37 -36 CTCCGTGCGC CCGCCAGCCT CGCCCGCGCC GTCACCATGA GCCAGGCCTA 14 15 CTCGTCCAGC CAGCGCGTGT CCTCCTACCG CCGCACCTTC GGCGGGGCCC 64 65 CGGGCTTCCC ACTCGGCTCC CCGCTGAGTT CGCCCGTGTT CCCGCGGGCG 114 115 GGTTTCGGCT CTAAGGGCTC CTCCAGCTCG GTGACGTCCC GCGTGTACCA 164 165 GGTGTCGCGC ACGTCGGGCG GGGCCGGGGG CCTGGGGTCG CTGCGGGCCA 214 215 GCCGGCTGGG GACCACCCGC ACGCCCTCCT CCTACGGCGC AGGCGAGCTG 264 265 CTGGACTTCT CACTGGCCGA CGCGGTGAAC CAGGAGTTTC TGACCACGCG 314 315 CACCAACGAG AAGGTGGAGC TGCAGGAGCT CAATGACCGC TTCGCCAACT 364 365 ACATCGAGAA GGTGCGCTTC CTGGAGCAGC AGAACGCGGC GCTCGCCGCC 414 415 GAAGTGAACC GGCTCAAGGG CCGCGAGCCG ACGCGAGTGG CCGAGCTCTA 464 465 CGAGGAGGAG CTGCGGGAGC TGCGGCGCCA GGTGGAGGTG CTCACTAACC 514 515 AGCGCGCGCG CGTCGACGTC GAGCGCGACA ACCTGCTCGA CGACCTGCAG 564 565 CGGCTCAAGG CCAAGCTGCA GGAGGAGATT CAGTTGAAGG AAGAAGCAGA 614 615 GAACAATTTG GCTGCCTTCC GAGCGGACGT GGATGCAGCT ACTCTAGCTC 664 665 GCATTGACCT GGAGCGCAGA ATTGAATCTC TCAACGAGGA GATCGCGTTC 714 715 CTTAAGAAAG TGCATGAAGA GGAGATCCGT GAGTTGCAGG CTCAGCTTCA 764 765 GGAACAGCAG GTCCAGGTGG AGATGGACAT GTCTAAGCCA GACCTCACTG 814 815 CCGCCCTCAG GGACATCCGG GCTCAGTATG AGACCATCGC GGCTAAGAAC 864 865 ATTTCTGAAG CTGAGGAGTG GTACAAGTCG AAGGTGTCAG ACCTGACCCA 914 915 GGCAGCCAAC AAGAACAACG ACGCCCTGCG CCAGGCCAAG CAGGAGATGA 964 965 TGGAATACCG ACACCAGATC CAGTCCTACA CCTGCGAGAT TGACGCCCTG 1014 1015 AAGGGCACTA ACGATTCCCT GATGAGGCAG ATGCGGGAAT TGGAGGACCG 1064 1065 ATTTGCCAGT GAGGCCAGTG GCTACCAGGA CAACATTGCG CGCCTGGAGG 1114 1115 AGGAAATCCG GCACCTCAAG GATGAGATGG CCCGCCATCT GCGCGAGTAC 1164 1165 CAGGACCTGC TCAACGTGAA GATGGCCCTG GATGTGGAGA TTGCCACCTA 1214 1215 CCGGAAGCTG CTGGAGGGAG AGGAGAGCCG GATCAATCTC CCCATCCAGA 1264 1265 CCTACTCTGC CCTCAACTTC CGAGAAACCA GCCCTGAGCA AAGGGGTTCT 1314 1315 GAGGTCCATA CCAAGAAGAC GGTGATGATC AAGACCATCG AGACACGGGA 1364 1365 TGGGGAGGTC GTCAGTGAGG CCACACAGCA GCAGCATGAA GTGCTCTAAA *1 *2 GACAGAGACC CTCTGCCACC AGAGACCGTC CTCACCCCTG TCCTCACTGC *51 *52 TCCCTGAAGC CAGCCTTCTT CCATCCCAGG ACACCACACC CAGCCTCAGT *101 *102 CCTCCCCTCA CAGCCTCTGA CCCCTCCTCA CTGGCCATCC CTCGTGGTCC *151 *152 CCAACAGCGA CATAGCCCAT CCCTGCCTGG TCACAGGGCA TGCCCCGGCC *201 *202 ACCTCTGCGG ACCCCAGCTG TGAGCCTTGG CTGTTGGCAG TGAGTGAGCC *251 *252 TGGCTCTTGT GCTGGATGGA GCCCAGGCGG GAGCGGTGGC CCTGTCCCTC *301 *302 CCACCTCTGT GACCTCAGGC ACTAGCCTTT GGCTCTGGAG ACAGCCCCAG *351 *352 AGCAGGGTGT TGGGATACTG CAGGGCCAGG ACTGAGCCCC GCAGACCTCC *401 *402 CCAGCCCCTA GCCCAGGAGA GAGAAAGCCA GGCAGGTAGC CAGGGGGACT *451 *452 AGCCCCTGTG GAGACTGGGG GGCTTGAAAT TGTCCCCGTG GTCTCTTACT *501 *502 TTCCTTTCCC CAGCCCAGGG TGGACTTAGA AAGCAGGGGC TACAAGAGGG *551 *552 AATCCCCGAA GGTGCTGGAG GTGGGAGCAG GAGATTGAGA AGGAGAGAAA *601 *602 GTGGGTGAGA TGCTGGAGAA GAGAGGAGAG GAGAGAGGCA GAGAGCGGTC *651 *652 TCAGGCTGGT GGGAGGGGCG CCCACCTCCC CACGCCCTCC CCTCCCCTGC *701 *702 TGCAGGGGCT CTGGAGAGAA ACAATAAAGA GATTCACACA CAAGCCAAAA *751 *752 AAAAAAAAAA AAAAAAAA Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:59:46 RefSeq ID NP_001918.3 GI 55749932 Isoelectric Point 4.9401 Molecular Weight 53535.6 Daltons Length 470 amino acids Download File | Text Sequence 1 MSQAYSSSQR VSSYRRTFGG APGFPLGSPL SSPVFPRAGF GSKGSSSSVT 50 51 SRVYQVSRTS GGAGGLGSLR ASRLGTTRTP SSYGAGELLD FSLADAVNQE 100 101 FLTTRTNEKV ELQELNDRFA NYIEKVRFLE QQNAALAAEV NRLKGREPTR 150 151 VAELYEEELR ELRRQVEVLT NQRARVDVER DNLLDDLQRL KAKLQEEIQL 200 201 KEEAENNLAA FRADVDAATL ARIDLERRIE SLNEEIAFLK KVHEEEIREL 250 251 QAQLQEQQVQ VEMDMSKPDL TAALRDIRAQ YETIAAKNIS EAEEWYKSKV 300 301 SDLTQAANKN NDALRQAKQE MMEYRHQIQS YTCEIDALKG TNDSLMRQMR 350 351 ELEDRFASEA SGYQDNIARL EEEIRHLKDE MARHLREYQD LLNVKMALDV 400 401 EIATYRKLLE GEESRINLPI QTYSALNFRE TSPEQRGSEV HTKKTVMIKT 450 451 IETRDGEVVS EATQQQHEVL Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 108 1A 109 143 L1 144 151 1B 152 252 L12 253 268 2A 269 287 L2 288 295 2B 296 416 Tail 417 470 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-25 18:09:05 Clone Name Species Reported Specificity Epitope Reference D33 mouse desmin - - DE-A-7 mouse desmin within 2B domain Debus et al, 1983 DE-B-5 mouse desmin within 2B domain Debus et al, 1983 DE-C-3 mouse desmin within 2B domain Debus et al, 1983 DE-D-1 mouse desmin within 2B domain Debus et al, 1983 DE-E-1 mouse desmin within 2B domain Debus et al, 1983 DE-H-1 mouse desmin within 2B domain Debus et al, 1983 DE-I-1 mouse desmin within 2B domain Debus et al, 1983 DE-J-4 mouse desmin between head and 2A domains Debus et al, 1983 DE-L-3 mouse desmin within 2B domain Debus et al, 1983 DE-R-11 mouse desmin within 2B domain Debus et al, 1983 DE-S-8 mouse desmin within 2B domain Debus et al, 1983 DE-U-10 mouse desmin within 2B domain Debus et al, 1983 RD301 mouse desmin - - ZC18 mouse desmin - Wu et al, 2007 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 56469. Information last updated on 2007-08-17 12:21:39 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 64362 NM_022531.1 NP_071976.1 Rodents Mus musculus 13346 NM_010043.1 NP_034173.1 Rodents Canis familiaris 497091 NM_001012394.1 NP_001012394.1 Mammals Pan troglodytes 470657 XM_526039.2 XP_526039.2 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 2009-10-07 17:23:52 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Desmin-related limb-girdle muscular dystrophy Desmin-related myopathy #601419 Dilated cardiomyopathy 1A CMD1A #115200 Dilated cardiomyopathy 1I CMD1I #604765 Dilated cardiomyopathy with conduction system defects DCM-CD Distal myopathy Familial restrictive cardiomyopathy 2 RCM2 %609578 Scapuloperoneal syndrome type Kaeser #181400 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 2009-10-07 17:23:52 * 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 13645 c.640-2A>G Substitution p.? Unknown - RCM2 Dunand et al, 2009 13649 c.517_537del21 Deletion p.Arg173_Glu179del Deletion - Desmin-related myopathy Piñol-Ripoll et al, 2009 8909 c.5G>T Substitution p.Ser2Ile Substitution Head Desmin-related myopathy Selcen et al, 2004 12367 c.38C>T Substitution p.Ser13Phe Substitution Head Desmin-related myopathy Bergman et al, 2007 12368 c.38C>T Substitution p.Ser13Phe Substitution Head Desmin-related myopathy Bergman et al, 2007 12437 c.38C>T Substitution p.Ser13Phe Substitution Head Desmin-related myopathy Pica et al, 2008 11656 c.46C>T Substitution p.Arg16Cys Substitution Head Desmin-related myopathy Arbustini et al, 2006 8910 c.137C>T Substitution p.Ser46Phe Substitution Head Desmin-related myopathy Selcen et al, 2004 8911 c.137C>A Substitution p.Ser46Tyr Substitution Head Desmin-related myopathy Selcen et al, 2004 11821 c.322G>A Substitution p.Glu108Lys Substitution Head DCM-CD Taylor et al, 2007 9326 c.517_537del21 Deletion p.Arg173_Glu179del Deletion 1B Desmin-related myopathy Muñoz-Mármol et al, 1998 11769 c.638C>T Substitution p.Ala213Val Substitution 1B Desmin-related myopathy Goudeau et al, 2006 11770 c.638C>T Substitution p.Ala213Val Substitution 1B Desmin-related myopathy Goudeau et al, 2006 12471 c.638C>T Substitution p.Ala213Val Substitution 1B CMD1A Kostareva et al, 2006 12469 c.640-2A>G Substitution p.? Unknown Unknown CMD1A Kostareva et al, 2006 9329 c.640-1G>A Substitution p.Asp214_Glu245del Deletion 1B Desmin-related myopathy Park et al, 2000 9589 c.720_721insA Insertion p.Lys241GlufsX4 Frame shift 1B Desmin-related myopathy Schröder et al, 2003 8902 c.735G>C Substitution p.Glu245Asp Substitution 1B Desmin-related myopathy Vrabie et al, 2005 13441 c.735G>C Substitution p.[Glu245Asp, Asp214_Glu245del] Deletion, Substitution 1B Desmin-related myopathy Clemen et al, 2008 11658 c.735+2_735+11delTATACCTTGG Deletion p.? Unknown Unknown Desmin-related myopathy Arbustini et al, 2006 9327 c.735+3A>G Substitution p.Asp214_Glu245del Deletion 1B Desmin-related myopathy Dalakas et al, 2000 9328 c.735+3A>G Substitution p.Asp214_Glu245del Deletion 1B Desmin-related myopathy Park et al, 2000 11822 c.893C>T Substitution p.Ser298Leu Substitution 2B DCM-CD Taylor et al, 2007 11823 c.934G>A Substitution p.Asp312Asn Substitution 2B CMD1A Taylor et al, 2007 8570 c.1009G>C Substitution p.Ala337Pro Substitution 2B Desmin-related myopathy Goldfarb et al, 1998 8573 c.1009G>C Substitution p.Ala337Pro Substitution 2B Desmin-related myopathy Dalakas et al, 2000 11719 c.1009G>C Substitution p.Ala337Pro Substitution 2B Desmin-related myopathy Yuri et al, 2007 11771 c.1013T>G Substitution p.Leu338Arg Substitution 2B Desmin-related myopathy Goudeau et al, 2006 8575 c.1024A>G Substitution p.Asn342Asp Substitution 2B Desmin-related myopathy Dalakas et al, 2000 8580 c.1024A>G Substitution p.Asn342Asp Substitution 2B Desmin-related myopathy Dalakas et al, 2003 8572 c.1034T>C Substitution p.Leu345Pro Substitution 2B Desmin-related myopathy Sjöberg et al, 1999 11653 c.1034T>C Substitution p.Leu345Pro Substitution 2B Desmin-related myopathy Carlsson et al, 2002 11824 c.1048C>T Substitution p.Arg350Trp Substitution 2B CMD1A Taylor et al, 2007 8903 c.1049G>C Substitution p.Arg350Pro Substitution 2B Desmin-related myopathy Bär et al, 2005 12043 c.1049G>C Substitution p.Arg350Pro Substitution 2B Scapuloperoneal syndrome type Kaeser Walter et al, 2007 12045 c.1049G>C Substitution p.Arg350Pro Substitution 2B Desmin-related limb-girdle muscular dystrophy Walter et al, 2007 12047 c.1049G>C Substitution p.Arg350Pro Substitution 2B Distal myopathy Walter et al, 2007 12049 c.1049G>C Substitution p.Arg350Pro Substitution 2B Desmin-related limb-girdle muscular dystrophy, Distal myopathy Walter et al, 2007 9072 c.1064G>C Substitution p.Arg355Pro Substitution 2B Desmin-related myopathy Fidziańska et al, 2005 8904 c.1069G>C Substitution p.Ala357Pro Substitution 2B Desmin-related myopathy Dagvadorj et al, 2003 9314 c.1075_1083delGAGGCCAGT Deletion p.Glu359_Ser361del Deletion 2B Desmin-related myopathy Kaminska et al, 2004 9587 c.[1078G>C; 1178A>T] Substitution p.[Ala360Pro; Asn393Ile] Substitution 2B Desmin-related myopathy Goldfarb et al, 1998 9588 c.[1078G>C; 1178A>T] Substitution p.[Ala360Pro; Asn393Ile] Substitution 2B Desmin-related myopathy Dalakas et al, 2000 9315 c.1096_1098delAAC Deletion p.Asn366del Deletion 2B Desmin-related myopathy Kaminska et al, 2004 8907 c.1096_1098delAAC Deletion p.Asn366del Deletion 2B Desmin-related myopathy Olivé et al, 2004 12083 c.1099A>T Substitution p.Ile367Phe Substitution 2B Desmin-related myopathy Olivé et al, 2007 8905 c.1109T>C Substitution p.Leu370Pro Substitution 2B Desmin-related myopathy Dagvadorj et al, 2003 11628 c.1109T>C Substitution p.Leu370Pro Substitution 2B Desmin-related myopathy Arias et al, 2006 11654 c.1126C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Arbustini et al, 2006 8578 c.1154T>C Substitution p.Leu385Pro Substitution 2B Desmin-related myopathy Sugawara et al, 2000 8579 c.1166A>C Substitution p.Gln389Pro Substitution 2B Desmin-related myopathy Goudeau et al, 2001 12081 c.1175T>C Substitution p.Leu392Pro Substitution 2B Desmin-related myopathy Olivé et al, 2007 11772 c.1195G>T Substitution p.Asp399Tyr Substitution 2B Desmin-related myopathy Goudeau et al, 2006 11773 c.1201G>A Substitution p.Glu401Lys Substitution 2B Desmin-related myopathy Goudeau et al, 2006 8576 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Dalakas et al, 2000 8577 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Park et al, 2000 8908 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Dagvadorj et al, 2004 11467 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Dagvadorj et al, 2004 11468 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Dagvadorj et al, 2004 11469 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Dagvadorj et al, 2004 8906 c.1216C>T Substitution p.Arg406Trp Substitution 2B Desmin-related myopathy Olivé et al, 2004 11635 c.1237G>A Substitution p.Glu413Lys Substitution 2B RCM2 Pruszczyk et al, 2007 12079 c.1255C>T Substitution p.Pro419Ser Substitution Tail Desmin-related myopathy Olivé et al, 2007 11735 c.1325C>T Substitution p.Thr442Ile Substitution Tail Desmin-related myopathy Bär et al, 2007 8912 c.1346A>C Substitution p.Lys449Thr Substitution Tail Desmin-related myopathy Selcen et al, 2004 8571 c.1353C>G Substitution p.Ile451Met Substitution Tail CMD1I Li et al, 1999 8574 c.1353C>G Substitution p.Ile451Met Substitution Tail Desmin-related myopathy Dalakas et al, 2000 8581 c.1353C>G Substitution p.Ile451Met Substitution Tail Desmin-related myopathy Dalakas et al, 2003 11657 c.1358C>T Substitution p.Thr453Ile Substitution Tail Desmin-related myopathy Arbustini et al, 2006 11736 c.1360C>T Substitution p.Arg454Trp Substitution Tail Desmin-related myopathy Bär et al, 2007 11825 c.1375G>A Substitution p.Val459Ile Substitution Tail CMD1A Taylor et al, 2007 11826 c.1375G>A Substitution p.Val459Ile Substitution Tail CMD1A Taylor et al, 2007 11737 c.1379G>T Substitution p.Ser460Ile Substitution Tail Desmin-related myopathy Bär et al, 2007 9292 c.1405G>A Substitution p.Val469Met Substitution Tail - Muntoni 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 2007-06-19 14:50:48 * 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. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 11828 c.638C>T Substitution p.Ala213Val Substitution 1B - 0.01 Taylor et al, 2007 Back to top