Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:58:47 * 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 12q13 Chromosome Strand + Chromosome GI 51511728 Chromosome RefSeq ID NC_000012.9 50981916 : TCCATTCGGA CGTCTCCATC CTCAGAACCT CCTCTCTTCC CCAAAAAGCA : 50981965 -52 : TCCATTCGGA CGTCTCCATC CTCAGAACCT CCTCTCTTCC CCAAAAAGCA : -3 50981966 : CCATGACTTG TGGATCTTAC TGTGGTGGCC GCGCCTTCAG CTGCATCTCG : 50982015 -2 : CCATGACTTG TGGATCTTAC TGTGGTGGCC GCGCCTTCAG CTGCATCTCG : 48 1 : M T C G S Y C G G R A F S C I S : 16 50982016 : GCCTGCGGGC CCCGGCCCGG CCGCTGCTGC ATCACCGCCG CCCCCTACCG : 50982065 49 : GCCTGCGGGC CCCGGCCCGG CCGCTGCTGC ATCACCGCCG CCCCCTACCG : 98 17 : A C G P R P G R C C I T A A P Y R : 33 50982066 : TGGCATCTCC TGCTACCGCG GCCTCACCGG GGGCTTCGGC AGCCACAGCG : 50982115 99 : TGGCATCTCC TGCTACCGCG GCCTCACCGG GGGCTTCGGC AGCCACAGCG : 148 34 : G I S C Y R G L T G G F G S H S : 49 VARIANTS : A : VARIANTS 50982116 : TGTGCGGAGG CTTTCGGGCC GGCTCCTGCG GACGCAGCTT CGGCTACCGC : 50982165 149 : TGTGCGGAGG CTTTCGGGCC GGCTCCTGCG GACGCAGCTT CGGCTACCGC : 198 50 : V C G G F R A G S C G R S F G Y R : 66 VARIANTS : H : VARIANTS 50982166 : TCCGGGGGCG TGTGCGGGCC CAGTCCCCCA TGCATCACCA CCGTGTCGGT : 50982215 199 : TCCGGGGGCG TGTGCGGGCC CAGTCCCCCA TGCATCACCA CCGTGTCGGT : 248 67 : S G G V C G P S P P C I T T V S V : 83 50982216 : CAACGAGAGC CTCCTCACGC CCCTCAACCT GGAGATCGAC CCCAACGCGC : 50982265 249 : CAACGAGAGC CTCCTCACGC CCCTCAACCT GGAGATCGAC CCCAACGCGC : 298 84 : N E S L L T P L N L E I D P N A : 99 VARIANTS : C : VARIANTS VARIANTS : G A : VARIANTS 50982266 : AGTGCGTGAA GCAGGAGGAG AAGGAGCAGA TCAAGTCCCT CAACAGCAGG : 50982315 299 : AGTGCGTGAA GCAGGAGGAG AAGGAGCAGA TCAAGTCCCT CAACAGCAGG : 348 100 : Q C V K Q E E K E Q I K S L N S R : 116 VARIANTS : D : VARIANTS VARIANTS : H : VARIANTS VARIANTS : A : VARIANTS 50982316 : TTCGCGGCCT TCATCGACAA GGTGGGTGTC CTGGATCACA CCCTTCCTGA : 50982365 349 : TTCGCGGCCT TCATCGACAA G : 369 117 : F A A F I D K : 123 VARIANTS : E : VARIANTS 50982366 : ACCCCCACCA CCTACACAGC CAGGGCCGGG CACTAAGGAT GGAGTCAGAG : 50982415 50982416 : GCACAAAGAC CTCTGCCTGC CTGAGATCCC AGTCTGATGG GCGAGGCACA : 50982465 50982466 : CAGACACACA GACAGACAGA CACATGCACA GACACACACA CACAGGCACT : 50982515 50982516 : CAAGATGCAG ACTCAGCTGA CAGTTCAGAT AGAGGGAGCT TGTGAAGGAA : 50982565 50982566 : AAGTGTGGCC AGGCTGCTCT GGGGCACAAG CTAGACATCA GGGAGTTGGG : 50982615 50982616 : GGAGGGGGGC ATGTGACCAC TGCTGCTGAA CTCAGAGGGG TTTGGGCAGC : 50982665 50982666 : CCCAGGGTGA GAGAGTAGGG TGCACTGACT TCCAGATGAC ACAGGGGAAG : 50982715 50982716 : GGCTGGGACA GCTGAGCTCC CTTCCAGATG GCCTGTGACA CCCTCTTCCT : 50982765 50982766 : GGCACCATCC CCAGAAACCT CATCTGTGAT CTGAACCTGA GTACTCTGCC : 50982815 50982816 : TGTGTGGGTT GCTGATCACC TAGTTTCATA GTGAGGGACT GAGCCTCTAC : 50982865 50982866 : TTCTGTTCAT CTGCTTGGGT GGGGGGTGGG GGGGGGGTCA CTCAACTCCC : 50982915 50982916 : CAGGGAGCAG GCACTGACAC CACCCAGCCC TTGCTCCACT CCTGAGTGGG : 50982965 50982966 : AAATCTAGAC ACAGATCATG ACCAGGAAAT CCAGAAATTG TCTGTCTCCC : 50983015 50983016 : ACTGCCCACC TCTACTCAAT CTCAGATAAG CTCCAGATTT GGGGGTTCCC : 50983065 50983066 : ATTAAAGCAC CTCCCCTGCG AGCCCCCAGA GCTGGCTTTG GGGCACCAGA : 50983115 50983116 : CACCATCTGC CCCACCTTCC CACACCGAAT GGCAGGTGCG CTTCCTGGAG : 50983165 370 : GTGCG CTTCCTGGAG : 384 124 : V R F L E : 128 VARIANTS : C : VARIANTS 50983166 : CAGCAGAACA AACTGCTGGA GACAAAGCTG CAGTTCTACC AGAACCGCGA : 50983215 385 : CAGCAGAACA AACTGCTGGA GACAAAGCTG CAGTTCTACC AGAACCGCGA : 434 129 : Q Q N K L L E T K L Q F Y Q N R E : 145 VARIANTS : P : VARIANTS 50983216 : GTGTTGCCAG AGCAACCTGG AGCCCCTGTT TGAGGGCTAC ATCGAGACTC : 50983265 435 : GTGTTGCCAG AGCAACCTGG AGCCCCTGTT TGAGGGCTAC ATCGAGACTC : 484 146 : C C Q S N L E P L F E G Y I E T : 161 50983266 : TGCGGCGGGA GGCCGAGTGC GTGGAGGCCG ACAGCGGGAG GCTGGCCTCA : 50983315 485 : TGCGGCGGGA GGCCGAGTGC GTGGAGGCCG ACAGCGGGAG GCTGGCCTCA : 534 162 : L R R E A E C V E A D S G R L A S : 178 50983316 : GAGCTTAACC ACGTGCAGGA GGTGCTGGAG GGCTACAAGA AGAAGTGAGT : 50983365 535 : GAGCTTAACC ACGTGCAGGA GGTGCTGGAG GGCTACAAGA AGAA : 578 179 : E L N H V Q E V L E G Y K K K : 193 50983366 : GCGGGCAAGA GGGATGCTGG GCACAGGAAT GGGGTTTAGG TTAAATACAC : 50983415 50983416 : TGGATTAGAC AATAAGAACT CCCAGGTAGG GTGAGTGGCC ATGACCACTA : 50983465 50983466 : GATTGACCGA GGGTGGCGGG GTCTTTTCCT TTGTGGAATC TTTGCCCAGA : 50983515 50983516 : CACCTGTGTA AGAGGAGGGC TGTGACTCCC ATGACCTGTC TCTGTCCCAC : 50983565 50983566 : TTCAGCCTTC TCTCCCTGAA CCACATCACC CAGCAGCTCT CCCCTGCGCT : 50983615 50983616 : GGGTGGGGAG GAAGCCTCTG CAGGGTCCAG GCCTTCTCTC CTGACCCTCA : 50983665 50983666 : GCCCCTATAC TTGTAGCACC TGTCAGATGT GAGCCCAGGG TCTCTCATGA : 50983715 50983716 : GTGACAGGTC TTGGGCTCTG GGTGTCGCAC TGCCTTAGGT TCTAAGTCCT : 50983765 50983766 : GAGGGTCTGC GGGTCCAGGA GGCCCCATAC CTGAGCTGGG ATTGATACCA : 50983815 50983816 : GTGAGGGGAG GCTAGGGCTA CAGGCCCTGA GAGTCCACGC TGTCCACTCC : 50983865 50983866 : CAGGATGGGG CTGGGGGCTG AGTCCTATTT GCCTCCTGGG GGACCTCAGA : 50983915 50983916 : GCCCCTTTGG GAACAGGACT GGGAGGTCCC AGATGAGCAC TCTCCATCCC : 50983965 50983966 : CAGTTCAAAG TGGATAGAGA ATCCCAGACA CATCCCACAT CCAACTAGAA : 50984015 50984016 : AGCACTAAGC TAGGCTGCCA GGCCGGGGCT GTGTGGAGGT GTTTCTAGTA : 50984065 50984066 : CTGTCCCCAT GGCTGTGATG AAGTGTGATG TGATGGTGGC TCTGCAGAGA : 50984115 50984116 : CCTGCCCTGC CCTGACCTCC CCTCTCTTCC CTCTGCTCTG TCTCAGGTAT : 50984165 579 : GTAT : 582 194 : Y : 194 50984166 : GAGGAGGAGG TTTCTCTGAG AGCAACAGCT GAGAACGAGT TTGTGGCTCT : 50984215 583 : GAGGAGGAGG TTTCTCTGAG AGCAACAGCT GAGAACGAGT TTGTGGCTCT : 632 195 : E E E V S L R A T A E N E F V A L : 211 50984216 : GAAGAAGGCA AGTGACACAG GATTGAGAAG CACAGATCTG TGGGATCTCA : 50984265 633 : GAAGAAG : 639 212 : K K : 213 50984266 : GAATGACAGA TTCTTCCTGG GGACACACAG GGGGTCTCAA CCTCAGCGTG : 50984315 50984316 : GGGCACAATG ACCTTTCCAC AGCAGGCTAG GACTGCCCAG ATGCAGGCCT : 50984365 50984366 : TTGTATTGAG CATCCAGGGC CTTGACAAAG GGCAATGACT TGGGAATATC : 50984415 50984416 : TACCAGCACC TACCTTGGGC AAGGGGATGG CTGCACTGTC CTCTGTGTGT : 50984465 50984466 : CCTGCTCTGT TCCAGAGGTT GTGGTCTATT GCTGAGGCCC CTGGAGCCAT : 50984515 50984516 : AGCAGATACA ATGTCTCTGC TGAGAGACAG TGCAGTCTGT CTAGCATTTT : 50984565 50984566 : GGGGAGTCTG ACCTTGAGGC AGAGACACAA TCCCAGGTTC TAAGGGGGGA : 50984615 50984616 : TGGAGAAGAA CCAGGAGTAG CCCTTGGGCT TTTGGAGCAC TGCTGGGGGA : 50984665 50984666 : CAGGAAAGGG TCAGGGTGTG AGAGCTGGGG GGTCAGTCTG GGCAGGCTTC : 50984715 50984716 : CTGGAGCAGG AGAGGGGAGA AAGGAGAGAT AAGAGGGTAA GGAGCAGTGA : 50984765 50984766 : AAGGCTGGTG AGCCGTGCCC AAGACAAACA GGGTTTGTCC TCAGAATGGC : 50984815 50984816 : AGAGGATGCC AGGTCACCCC GGGAAGGGCC AGAAGGGAAG GAGAGGGCAT : 50984865 50984866 : GGGAATGAGA CACTGGGGAC TCCTTTCCCC AGGCTTCATG GAATGGGTGG : 50984915 50984916 : GAAGAGAGAG GAATCTAGAG GCTGGATCAC CAGGGTCCTT GAGCTCCAAC : 50984965 50984966 : ACTCCCCACC TTTCCAGGAT GTGGACTGCG CCTACCTCCG CAAATCAGAC : 50985015 640 : GAT GTGGACTGCG CCTACCTCCG CAAATCAGAC : 672 214 : D V D C A Y L R K S D : 224 50985016 : CTGGAGGCCA ATGTGGAGGC CCTGATCCAG GAGATCGACT TCCTGAGGCG : 50985065 673 : CTGGAGGCCA ATGTGGAGGC CCTGATCCAG GAGATCGACT TCCTGAGGCG : 722 225 : L E A N V E A L I Q E I D F L R R : 241 50985066 : GCTGTATGAG GAGGTGCGGG CTCAGGGGCC AGGCAGAGAC CTGGCAGCCA : 50985115 723 : GCTGTATGAG GAG : 735 242 : L Y E E : 245 50985116 : GCAGAGAGGA GAGATGGGGG TGGGAGTGTT GGACAGGATG TGGGTAGAGG : 50985165 50985166 : TTGCAGTCCC TGAGGCTGTG TGAGGGGGCA GGGTTGGGGA CCAGAGAAAG : 50985215 50985216 : CCTGAGGAGG TGGAGTCAGG ACATGGTGGG TGGGGCTGTG TTCTCAACTA : 50985265 50985266 : AAGTCACTGC CCTCACCTCC TGCAGGAGAT CCGCGTTCTC CAGTCCCACA : 50985315 736 : GAGAT CCGCGTTCTC CAGTCCCACA : 760 246 : E I R V L Q S H : 253 50985316 : TCTCAGACAC CTCCGTGGTT GTCAAGCTGG ACAACAGCCG GGACCTGAAC : 50985365 761 : TCTCAGACAC CTCCGTGGTT GTCAAGCTGG ACAACAGCCG GGACCTGAAC : 810 254 : I S D T S V V V K L D N S R D L N : 270 50985366 : ATGGACTGCA TCATTGCCGA GATCAAGGCA CAGTACGATG ACATTGTCAC : 50985415 811 : ATGGACTGCA TCATTGCCGA GATCAAGGCA CAGTACGATG ACATTGTCAC : 860 271 : M D C I I A E I K A Q Y D D I V T : 287 50985416 : CCGTAGCCGG GCTGAGGCCG AGTCCTGGTA CCGCAGCAAG GTGAGTGGCA : 50985465 861 : CCGTAGCCGG GCTGAGGCCG AGTCCTGGTA CCGCAGCAAG : 900 288 : R S R A E A E S W Y R S K : 300 50985466 : CAGGACACCT GCCTGCTAGA CATGGCAGTG GGAGGGATTT GAGATTATCT : 50985515 50985516 : ATTAAATAGG CTTCCTTTTC TGGGGATGCA CTAGGGATGA GAAGAGATGG : 50985565 50985566 : CTGCCACTCT GATGTTGGGG TGGTAGGGCA GGACTGCCAT GTGTGGTTGC : 50985615 50985616 : ACAGGCTGAG CACTGCACAA CCTGCAAAAT CATCTGTCAT GCCCTGAATG : 50985665 50985666 : GGTGGGAGGT CCCACCCTGA ACCTCATGAG CATCTCTACT TCCCCCAGTG : 50985715 901 : TG : 902 301 : C : 301 50985716 : TGAGGAGATG AAGGCCACGG TGATCAGGCA CGGGGAGACC CTGCGCCGCA : 50985765 903 : TGAGGAGATG AAGGCCACGG TGATCAGGCA CGGGGAGACC CTGCGCCGCA : 952 302 : E E M K A T V I R H G E T L R R : 317 50985766 : CCAAGGAGGA GATCAACGAG CTGAACCGCA TGATCCAGAG GCTGACGGCT : 50985815 953 : CCAAGGAGGA GATCAACGAG CTGAACCGCA TGATCCAGAG GCTGACGGCT : 1002 318 : T K E E I N E L N R M I Q R L T A : 334 50985816 : GAGGTGGAGA ATGCCAAGTG CCAGGTATGG GGCATCTGTG CCCAAGGTCA : 50985865 1003 : GAGGTGGAGA ATGCCAAGTG CCAG : 1026 335 : E V E N A K C Q : 342 50985866 : GAGAGACCGA GGGTCTAACC ATGGTCACAC AGCCTATGTG TGCCCTATCT : 50985915 50985916 : GGATCTCAGC ATTCATTCTC CAGCCCCTCT GTCCATGTAG AGTCCCTGGT : 50985965 50985966 : TGTGGTCTCT GTGAGTCCCA GGTGATGAAG GCAAGAGGCT CTGTTCTGGG : 50986015 50986016 : GTGCTCCCAG CTTGGTGGGG AGCATGGTCT CATCGAGGTA AGCATCAGAG : 50986065 50986066 : AGACCCAGGG ACTCTAATCT ACCTTGTTCT CTCTGTTCTC TTCAGAATTC : 50986115 1027 : AATTC : 1031 343 : N S : 344 50986116 : CAAGCTGGAG GCTGCGGTGG CTCAGTCTGA GCAGCAGGGT GAGGCGGCCC : 50986165 1032 : CAAGCTGGAG GCTGCGGTGG CTCAGTCTGA GCAGCAGGGT GAGGCGGCCC : 1081 345 : K L E A A V A Q S E Q Q G E A A : 360 50986166 : TCAGCGATGC CCGCTGCAAG TTGGCCGAGC TGGAGGGTGC CCTGCAGAAG : 50986215 1082 : TCAGCGATGC CCGCTGCAAG TTGGCCGAGC TGGAGGGTGC CCTGCAGAAG : 1131 361 : L S D A R C K L A E L E G A L Q K : 377 50986216 : GCCAAGCAGG ACATGGCCTG CCTGATCAGG GAGTACCAGG AGGTGATGAA : 50986265 1132 : GCCAAGCAGG ACATGGCCTG CCTGATCAGG GAGTACCAGG AGGTGATGAA : 1181 378 : A K Q D M A C L I R E Y Q E V M N : 394 VARIANTS : A : VARIANTS VARIANTS : C : VARIANTS 50986266 : CTCCAAGCTG GGCCTGGACA TCGAGATCGC CACCTACAGG CGCCTGCTGG : 50986315 1182 : CTCCAAGCTG GGCCTGGACA TCGAGATCGC CACCTACAGG CGCCTGCTGG : 1231 395 : S K L G L D I E I A T Y R R L L : 410 VARIANTS : Q : VARIANTS VARIANTS : K : VARIANTS VARIANTS : A T : VARIANTS 50986316 : AGGGCGAGGA GCAGAGGTGG GTCCCATAGA CCTTTCCCTT TCCCAGCCCT : 50986365 1232 : AGGGCGAGGA GCAGAG : 1247 411 : E G E E Q R : 416 VARIANTS : K : VARIANTS VARIANTS : D : VARIANTS 50986366 : GCCAGGGTTC TCAGTGTGCT CTGTCCTCAC ACTCCTGGCA GCATTTAAGT : 50986415 50986416 : TTTGTTTCTT AACCTCCCCA CCCTGCAACC AGACAGGTAA TTTGTGTAAG : 50986465 50986466 : TCCTTTAAGT ATGATCTAGC CCCGTTTGAG TCTCTCATGT TCACCCAGGC : 50986515 50986516 : ACTGATCTGA GATTGCAGTC TTGTTCATCT CAGTTGAGAT CCAGTAATCT : 50986565 50986566 : GGCAGCAGGT ATTCCTGTTA CTGAGAAGCC TAATTAAGGC TTGGGGTCAG : 50986615 50986616 : CTTGCCTGGG TAGTGCTTCT TCCCTTCCAG CTGTAGCTGC ATGTGCTTCT : 50986665 50986666 : CAGGATTCCT TCTCTTTTTC CTAGTCTGGC CCTGGCCCCA TCTAGACCTG : 50986715 50986716 : GGAGTTCAGA TGTATCCCAT AAGGACAGCT TCAGATAGAT GACACTATCA : 50986765 50986766 : ACTCATGCTT TTCTATTATA GTGCCAATGA GCATCCCAAA GTGGTATTCC : 50986815 50986816 : ATTGTGGCAG GTGGGAATGA GTTAGGCAGA GAGCAAGGAC TTATCCCTTG : 50986865 50986866 : GGGCAGTTAT GCCTTGCTTT CAGGATTTTT GCTTGTTTGC TTGCTTCAGA : 50986915 50986916 : GGTGGGGGGA GTGGAGAAGA CCCATTGGTC ACTCAGCCTT CCTATGGCTG : 50986965 50986966 : GAGGCCAGCG ATACAGCTGG AGGGCAGCTA TACAGCTCCT GCTCCCAGAA : 50987015 50987016 : GGACAACACT CCCAGAATGT GAGCTCATTC TTTGCCCTTG GTTTCTTTCC : 50987065 50987066 : CCTAGTTGGT CAGTTGGTCT CACTCGAAGC TCCTTTTTTT TTGTGGACAG : 50987115 50987116 : TCAGGCCCTT GGCCCTGGGG AGAGGAGGGT GAAGGTTGGG GATGCAGAGG : 50987165 50987166 : GAGCATCTTG TTTATTTGGG AAATGGGGAA CACAGGTTTG GGACCTAGAA : 50987215 50987216 : ACTAAAGTGA CCATATGACG AGATTTCCAC CAAACTCGAG TTGTTCCATT : 50987265 50987266 : GGAAAGCTCA GAGGCAGGGG TCTGTCTGGC TGGGCCTGGG GAATTTCATA : 50987315 50987316 : AGTGAAGAAT TCTGGGAGGA GGAGTTTTCC AAGTCTGAAT TTGGAAGTTG : 50987365 50987366 : GAGAAACACA TGGAGATGGC ATTGGAATCT GAGTGGCCCA CTCCTCCATC : 50987415 50987416 : ACACGGGGCT CTTGGAGTGA ACTCAGGAGC TTTGGTATGT GTTACCTAGG : 50987465 50987466 : GAACCTGGGC ATGGAATGAT TTGATGGTGG CCATGGCTTC TCTTATCTGA : 50987515 50987516 : AGCTGATTTA ACCAATCCTT GGCCAGTGTG CTTTCAGGGG AACTCCATTT : 50987565 50987566 : TCTTCCCTTA GGGGAAGCTA TTGGGAGGGA AATGTGGGGT GGGTAGAAAT : 50987615 50987616 : GAGTGTCTGG GGTGACAGCC CTGCCTTGTC ATTGGATATG TCCTCCTTCT : 50987665 50987666 : GGGCCTCAGC CTTTCCATCT GCCGGATGAG AGGACTGTGG TGGGCAGTCT : 50987715 50987716 : CTGAGCCTGT TCTAAAATCC CATTTGTTTA TCTAACAGTT TTGTATTGAG : 50987765 50987766 : CCAGGCATTG TTTTTAGGTG GTGCAGGAAG GAATAGACAA AAATGTCTAC : 50987815 50987816 : CCTCCTGATG CCTATAATCT AATGACACCA ATCAGACTGG ATTTCAGAAG : 50987865 50987866 : TTAAATCTGC TCCCCTCAAA TGCACCTGCA ATTCAGTCAG AACCAACTTC : 50987915 50987916 : GAGGTAGTGG CAGCTAATAG CTCTTAAGGG CTATGAGCCA GGCACTAAGC : 50987965 50987966 : ACTGGACGCT TCTTATTTGA TTCAGTCCTC GCAAGAGATC TACGAAGTAG : 50988015 50988016 : GTTTTCCTGA TGAGGAAGCC TAGGCTGAGG TTGGCCCAAG CTGGGGTTGC : 50988065 50988066 : ACAGCTCAGA AGCAGTGGAG AGCGAGGCAC TCACAGGCCT TCTGTCTCCA : 50988115 50988116 : GACCCTCACG GTGACCCGAG TCTACACTGG CTCCTGGCCG AGAGCATTTC : 50988165 50988166 : TTGCCCCTTC CCTTGGGCAA GTGCCCAGAT GGAGGGCCAC AGATGTCCCC : 50988215 50988216 : CTCCACTTCA GTCACGGGGG CCCGGCGCCT TTTCCGCGGC ACTGACCTCT : 50988265 50988266 : CGCCTTCTCT CCCTGCAGGC TGTGCGAGGG CGTCGGCTCG GTGAATGTCT : 50988315 1248 : GC TGTGCGAGGG CGTCGGCTCG GTGAATGTCT : 1279 417 : L C E G V G S V N V : 426 50988316 : GTAAGTAGTG GGGTCCGTCC CCTCCTCCCG CTGGGCGGGT CTGGGAGCCT : 50988365 50988366 : CTGGGCAAAG GGCGCGTGGG CTCGCAGCAA AGCCACTCAC CCAGGTCGCG : 50988415 50988416 : GCTGCGCCTG ACGCGCGCCT CCGTCTCTTT CCCCTGCAGG CGTCAGCAGC : 50988465 1280 : G CGTCAGCAGC : 1290 427 : C V S S : 430 50988466 : TCCCGCGGTG GCGTTGTCTG TGGCGATCTC TGCGCCTCCA CTACTGCCCC : 50988515 1291 : TCCCGCGGTG GCGTTGTCTG TGGCGATCTC TGCGCCTCCA CTACTGCCCC : 1340 431 : S R G G V V C G D L C A S T T A P : 447 50988516 : TGTTGTCTCC ACCAGAGTCA GTAGCGTCCC CAGCAACAGC AACGTGGTGG : 50988565 1341 : TGTTGTCTCC ACCAGAGTCA GTAGCGTCCC CAGCAACAGC AACGTGGTGG : 1390 448 : V V S T R V S S V P S N S N V V : 463 50988566 : TGGGCACTAC TAACGCCTGC GCCCCCTCCG CCCGGGTTGG CGTCTGCGGC : 50988615 1391 : TGGGCACTAC TAACGCCTGC GCCCCCTCCG CCCGGGTTGG CGTCTGCGGC : 1440 464 : V G T T N A C A P S A R V G V C G : 480 50988616 : GGCAGCTGTA AGAGGTGCTA GGAGGCTGCC GCCTCCGCCA GCGCCTGTCG : 50988665 1441 : GGCAGCTGTA AGAGGTGCTA GGAGGCTGCC GCCTCCGCCA GCGCCTGTCG : *29 481 : G S C K R C : 486 50988666 : CCGTCACTCT CCACCCAGCC AGTACCTCGC GCCACCAGAA CGCGCCGCCC : 50988715 *30 : CCGTCACTCT CCACCCAGCC AGTACCTCGC GCCACCAGAA CGCGCCGCCC : *79 50988716 : GCGCCGGCCT CCCAATAGCC GCCGCCCGCT GCCTGCACTC TAAGCGCCCT : 50988765 *80 : GCGCCGGCCT CCCAATAGCC GCCGCCCGCT GCCTGCACTC TAAGCGCCCT : *129 50988766 : CCCCACCGCT CCGCTCCGGG AGCCATCCCC GGTCGCAGGA GTCCGGGGAG : 50988815 *130 : CCCCACCGCT CCGCTCCGGG AGCCATCCCC GGTCGCAGGA GTCCGGGGAG : *179 50988816 : GGCCGGGAGG CGCCATGGTC TCTCTCTGTA GCCTTTCCTG GTAGTCAATT : 50988865 *180 : GGCCGGGAGG CGCCATGGTC TCTCTCTGTA GCCTTTCCTG GTAGTCAATT : *229 50988866 : TGTTGTCCCG AGGATTCATC TTTTTCTTCC GCCTGCCTTC TGTTTTTTTT : 50988915 *230 : TGTTGTCCCG AGGATTCATC TTTTTCTTCC GCCTGCCTTC TGTTTTTTTT : *279 50988916 : GCTGTATACA TTGGTCTTGC CTGAGCTCTT CCCCAAAGCT TGGAGGAACG : 50988965 *280 : GCTGTATACA TTGGTCTTGC CTGAGCTCTT CCCCAAAGCT TGGAGGAACG : *329 50988966 : GGGGAGGCCC GGGAATGTCC CTGTCTGCAC GACCTGGGAC TCTGCCCATG : 50989015 *330 : GGGGAGGCCC GGGAATGTCC CTGTCTGCAC GACCTGGGAC TCTGCCCATG : *379 50989016 : TGCTTTTGCC TGTGGAATGG AGACGCGGAC CCTGGATAGT GGTTCTATGA : 50989065 *380 : TGCTTTTGCC TGTGGAATGG AGACGCGGAC CCTGGATAGT GGTTCTATGA : *429 50989066 : CTCTGCGAGG GACAGGCCCA CGCGTGTGGG GAGAACATCT CCCTTCCGGG : 50989115 *430 : CTCTGCGAGG GACAGGCCCA CGCGTGTGGG GAGAACATCT CCCTTCCGGG : *479 50989116 : GCTGCCCTCA AGAGCTTCTG AAAAACTAAT GACTCTGCTG CCTTCTCCTT : 50989165 *480 : GCTGCCCTCA AGAGCTTCTG AAAAACTAAT GACTCTGCTG CCTTCTCCTT : *529 50989166 : TGTCTTTGTT TCACTCTGTG TTTCCAATAA ACTCATTGTA GCGAATCAA : 50989214 *530 : TGTCTTTGTT TCACTCTGTG TTTCCAATAA ACTCATTGTA GCGAATCAA : *578 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:58:47 RefSeq ID NM_002284.3 GI 109637786 Length 2091 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -52 TCCATTCGGA CGTCTCCATC CTCAGAACCT CCTCTCTTCC CCAAAAAGCA -3 -2 CCATGACTTG TGGATCTTAC TGTGGTGGCC GCGCCTTCAG CTGCATCTCG 48 49 GCCTGCGGGC CCCGGCCCGG CCGCTGCTGC ATCACCGCCG CCCCCTACCG 98 99 TGGCATCTCC TGCTACCGCG GCCTCACCGG GGGCTTCGGC AGCCACAGCG 148 149 TGTGCGGAGG CTTTCGGGCC GGCTCCTGCG GACGCAGCTT CGGCTACCGC 198 199 TCCGGGGGCG TGTGCGGGCC CAGTCCCCCA TGCATCACCA CCGTGTCGGT 248 249 CAACGAGAGC CTCCTCACGC CCCTCAACCT GGAGATCGAC CCCAACGCGC 298 299 AGTGCGTGAA GCAGGAGGAG AAGGAGCAGA TCAAGTCCCT CAACAGCAGG 348 349 TTCGCGGCCT TCATCGACAA GGTGCGCTTC CTGGAGCAGC AGAACAAACT 398 399 GCTGGAGACA AAGCTGCAGT TCTACCAGAA CCGCGAGTGT TGCCAGAGCA 448 449 ACCTGGAGCC CCTGTTTGAG GGCTACATCG AGACTCTGCG GCGGGAGGCC 498 499 GAGTGCGTGG AGGCCGACAG CGGGAGGCTG GCCTCAGAGC TTAACCACGT 548 549 GCAGGAGGTG CTGGAGGGCT ACAAGAAGAA GTATGAGGAG GAGGTTTCTC 598 599 TGAGAGCAAC AGCTGAGAAC GAGTTTGTGG CTCTGAAGAA GGATGTGGAC 648 649 TGCGCCTACC TCCGCAAATC AGACCTGGAG GCCAATGTGG AGGCCCTGAT 698 699 CCAGGAGATC GACTTCCTGA GGCGGCTGTA TGAGGAGGAG ATCCGCGTTC 748 749 TCCAGTCCCA CATCTCAGAC ACCTCCGTGG TTGTCAAGCT GGACAACAGC 798 799 CGGGACCTGA ACATGGACTG CATCATTGCC GAGATCAAGG CACAGTACGA 848 849 TGACATTGTC ACCCGTAGCC GGGCTGAGGC CGAGTCCTGG TACCGCAGCA 898 899 AGTGTGAGGA GATGAAGGCC ACGGTGATCA GGCACGGGGA GACCCTGCGC 948 949 CGCACCAAGG AGGAGATCAA CGAGCTGAAC CGCATGATCC AGAGGCTGAC 998 999 GGCTGAGGTG GAGAATGCCA AGTGCCAGAA TTCCAAGCTG GAGGCTGCGG 1048 1049 TGGCTCAGTC TGAGCAGCAG GGTGAGGCGG CCCTCAGCGA TGCCCGCTGC 1098 1099 AAGTTGGCCG AGCTGGAGGG TGCCCTGCAG AAGGCCAAGC AGGACATGGC 1148 1149 CTGCCTGATC AGGGAGTACC AGGAGGTGAT GAACTCCAAG CTGGGCCTGG 1198 1199 ACATCGAGAT CGCCACCTAC AGGCGCCTGC TGGAGGGCGA GGAGCAGAGG 1248 1249 CTGTGCGAGG GCGTCGGCTC GGTGAATGTC TGCGTCAGCA GCTCCCGCGG 1298 1299 TGGCGTTGTC TGTGGCGATC TCTGCGCCTC CACTACTGCC CCTGTTGTCT 1348 1349 CCACCAGAGT CAGTAGCGTC CCCAGCAACA GCAACGTGGT GGTGGGCACT 1398 1399 ACTAACGCCT GCGCCCCCTC CGCCCGGGTT GGCGTCTGCG GCGGCAGCTG 1448 1449 TAAGAGGTGC TAGGAGGCTG CCGCCTCCGC CAGCGCCTGT CGCCGTCACT *37 *38 CTCCACCCAG CCAGTACCTC GCGCCACCAG AACGCGCCGC CCGCGCCGGC *87 *88 CTCCCAATAG CCGCCGCCCG CTGCCTGCAC TCTAAGCGCC CTCCCCACCG *137 *138 CTCCGCTCCG GGAGCCATCC CCGGTCGCAG GAGTCCGGGG AGGGCCGGGA *187 *188 GGCGCCATGG TCTCTCTCTG TAGCCTTTCC TGGTAGTCAA TTTGTTGTCC *237 *238 CGAGGATTCA TCTTTTTCTT CCGCCTGCCT TCTGTTTTTT TTGCTGTATA *287 *288 CATTGGTCTT GCCTGAGCTC TTCCCCAAAG CTTGGAGGAA CGGGGGAGGC *337 *338 CCGGGAATGT CCCTGTCTGC ACGACCTGGG ACTCTGCCCA TGTGCTTTTG *387 *388 CCTGTGGAAT GGAGACGCGG ACCCTGGATA GTGGTTCTAT GACTCTGCGA *437 *438 GGGACAGGCC CACGCGTGTG GGGAGAACAT CTCCCTTCCG GGGCTGCCCT *487 *488 CAAGAGCTTC TGAAAAACTA ATGACTCTGC TGCCTTCTCC TTTGTCTTTG *537 *538 TTTCACTCTG TGTTTCCAAT AAACTCATTG TAGCGAATCA A Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:58:47 RefSeq ID NP_002275.1 GI 14318422 Isoelectric Point 5.3537 Molecular Weight 53500.5 Daltons Length 486 amino acids Download File | Text Sequence 1 MTCGSYCGGR AFSCISACGP RPGRCCITAA PYRGISCYRG LTGGFGSHSV 50 51 CGGFRAGSCG RSFGYRSGGV CGPSPPCITT VSVNESLLTP LNLEIDPNAQ 100 101 CVKQEEKEQI KSLNSRFAAF IDKVRFLEQQ NKLLETKLQF YQNRECCQSN 150 151 LEPLFEGYIE TLRREAECVE ADSGRLASEL NHVQEVLEGY KKKYEEEVSL 200 201 RATAENEFVA LKKDVDCAYL RKSDLEANVE ALIQEIDFLR RLYEEEIRVL 250 251 QSHISDTSVV VKLDNSRDLN MDCIIAEIKA QYDDIVTRSR AEAESWYRSK 300 301 CEEMKATVIR HGETLRRTKE EINELNRMIQ RLTAEVENAK CQNSKLEAAV 350 351 AQSEQQGEAA LSDARCKLAE LEGALQKAKQ DMACLIREYQ EVMNSKLGLD 400 401 IEIATYRRLL EGEEQRLCEG VGSVNVCVSS SRGGVVCGDL CASTTAPVVS 450 451 TRVSSVPSNS NVVVGTTNAC APSARVGVCG GSCKRC Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 106 1A 107 141 L1 142 151 1B 152 252 L12 253 269 2A 270 288 L2 289 296 2B 297 417 Tail 418 486 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 1717. Information last updated on 2007-08-17 12:21:19 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 407760 NM_001008810.1 NP_001008810.1 Rodents Mus musculus 16679 NM_010667.1 NP_034797.1 Rodents Canis familiaris 486530 XM_543656.2 XP_543656.2 Mammals Pan troglodytes 466985 XM_522385.2 XP_522385.2 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 2008-05-06 16:09:33 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Monilethrix #158000 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 2008-05-06 16:09:33 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. ID DNA Sequence Variant DNA Sequence Variant Type Protein Sequence Variant Protein Sequence Variant Type Domain Associated Disease Reference 8682 c.340A>G Substitution p.Asn114Asp Substitution 1A Monilethrix Winter et al, 1999 8685 c.340A>C Substitution p.Asn114His Substitution 1A Monilethrix Korge et al, 1999 8686 c.340A>G Substitution p.Asn114Asp Substitution 1A Monilethrix Korge et al, 1999 8689 c.353C>A Substitution p.Ala118Glu Substitution 1A Monilethrix Winter et al, 2000 8681 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Winter et al, 1999 8687 c.1204G>C Substitution p.Glu402Gln Substitution 2B Monilethrix Pearce et al, 1999 8688 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Pearce et al, 1999 9526 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Horev et al, 2000 11387 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Horev et al, 2000 8697 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Djabali et al, 2003 9264 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Horev et al, 2003 8986 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix van Steensel et al, 2005 12606 c.1204G>A Substitution p.Glu402Lys Substitution 2B Monilethrix Feng et al, 2008 8667 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Winter et al, 1997 11332 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Winter et al, 1997 11333 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Winter et al, 1997 8670 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1998 11334 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1998 11335 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1998 11336 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1998 11337 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1998 8676 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 11345 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 11346 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 11347 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 11348 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 8683 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 11353 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Korge et al, 1999 8692 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Horev et al, 2000 11386 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Horev et al, 2000 8698 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Djabali et al, 2003 8993 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Khandpur et al, 2004 11470 c.1237G>A Substitution p.Glu413Lys Substitution 2B Monilethrix Khandpur et al, 2004 8666 c.1239G>T Substitution p.Glu413Asp Substitution 2B Monilethrix Winter et al, 1997 8675 c.1239G>T Substitution p.Glu413Asp Substitution 2B Monilethrix Zlotogorski et al, 1998 8690 c.1239G>T Substitution p.Glu413Asp Substitution 2B Monilethrix Horev et al, 2000 11385 c.1239G>T Substitution p.Glu413Asp Substitution 2B Monilethrix Horev et al, 2000 8696 c.1239G>T Substitution p.Glu413Asp Substitution 2B Monilethrix Oetting et al, 1999 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 8987 c.197G>A Substitution p.Arg66His Substitution Head Caucasian - van Steensel et al, 2005 8988 c.348G>A Substitution p.= Silent Not affected Caucasian - van Steensel et al, 2005 8989 c.416A>C Substitution p.Gln139Pro Substitution 1A Caucasian - van Steensel et al, 2005 11294 c.416A>C Substitution p.Gln139Pro Substitution 1A Caucasian - van Steensel et al, 2005 Back to top