Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 16:59:28 * 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 17q21 Chromosome Strand - Chromosome GI 51511734 Chromosome RefSeq ID NC_000017.9 40348394 : AGAGCCAGAG CAGGATGGAG AGGAGACGCA TCACCTCCGC TGCTCGCCGC : 40348345 -14 : AGAGCCAGAG CAGGATGGAG AGGAGACGCA TCACCTCCGC TGCTCGCCGC : 36 1 : M E R R R I T S A A R R : 12 40348344 : TCCTACGTCT CCTCAGGGGA GATGATGGTG GGGGGCCTGG CTCCTGGCCG : 40348295 37 : TCCTACGTCT CCTCAGGGGA GATGATGGTG GGGGGCCTGG CTCCTGGCCG : 86 13 : S Y V S S G E M M V G G L A P G R : 29 VARIANTS : C A : VARIANTS 40348294 : CCGTCTGGGT CCTGGCACCC GCCTCTCCCT GGCTCGAATG CCCCCTCCAC : 40348245 87 : CCGTCTGGGT CCTGGCACCC GCCTCTCCCT GGCTCGAATG CCCCCTCCAC : 136 30 : R L G P G T R L S L A R M P P P : 45 VARIANTS : T : VARIANTS VARIANTS : TA : VARIANTS 40348244 : TCCCGACCCG GGTGGATTTC TCCCTGGCTG GGGCACTCAA TGCTGGCTTC : 40348195 137 : TCCCGACCCG GGTGGATTTC TCCCTGGCTG GGGCACTCAA TGCTGGCTTC : 186 46 : L P T R V D F S L A G A L N A G F : 62 VARIANTS : L : VARIANTS VARIANTS : L : VARIANTS VARIANTS : C : VARIANTS VARIANTS : A : VARIANTS VARIANTS : G T GA : VARIANTS VARIANTS : C TA A C G TG TT : VARIANTS 40348194 : AAGGAGACCC GGGCCAGTGA GCGGGCAGAG ATGATGGAGC TCAATGACCG : 40348145 187 : AAGGAGACCC GGGCCAGTGA GCGGGCAGAG ATGATGGAGC TCAATGACCG : 236 63 : K E T R A S E R A E M M E L N D R : 79 VARIANTS : Q Q K T V Y C : VARIANTS VARIANTS : W R F S L : VARIANTS VARIANTS : G : VARIANTS VARIANTS : H : VARIANTS VARIANTS : H : VARIANTS VARIANTS : P : VARIANTS VARIANTS : A : VARIANTS VARIANTS : C d dddG T C : VARIANTS 40348144 : CTTTGCCAGC TACATCGAGA AGGTTCGCTT CCTGGAACAG CAAAACAAGG : 40348095 237 : CTTTGCCAGC TACATCGAGA AGGTTCGCTT CCTGGAACAG CAAAACAAGG : 286 80 : F A S Y I E K V R F L E Q Q N K : 95 VARIANTS : H dddd C P : VARIANTS VARIANTS : G S : VARIANTS VARIANTS : C : VARIANTS 40348094 : CGCTGGCTGC TGAGCTGAAC CAGCTGCGGG CCAAGGAGCC CACCAAGCTG : 40348045 287 : CGCTGGCTGC TGAGCTGAAC CAGCTGCGGG CCAAGGAGCC CACCAAGCTG : 336 96 : A L A A E L N Q L R A K E P T K L : 112 VARIANTS : P : VARIANTS VARIANTS : T : VARIANTS VARIANTS : A A : VARIANTS 40348044 : GCAGACGTCT ACCAGGCTGA GCTGCGAGAG CTGCGGCTGC GGCTCGATCA : 40347995 337 : GCAGACGTCT ACCAGGCTGA GCTGCGAGAG CTGCGGCTGC GGCTCGATCA : 386 113 : A D V Y Q A E L R E L R L R L D Q : 129 VARIANTS : I N : VARIANTS VARIANTS : F : VARIANTS 40347994 : ACTCACCGCC AACAGCGCCC GGCTGGAGGT TGAGAGGGAC AATCTGGCAC : 40347945 387 : ACTCACCGCC AACAGCGCCC GGCTGGAGGT TGAGAGGGAC AATCTGGCAC : 436 130 : L T A N S A R L E V E R D N L A : 145 40347944 : AGGACCTGGC CACTGTGAGG CAGAAGTGAG GAGGGGATGG GGAAGGGGGG : 40347895 437 : AGGACCTGGC CACTGTGAGG CAGAA : 461 146 : Q D L A T V R Q K : 154 40347894 : CCTTGTGAGC AGAAGGGGCT GAATCCCCAA GAAGGAGTGC CCGAGAAGTC : 40347845 40347844 : TCAGGGAGGG GCCGAACCTC CCTGCTCCCT GGGCCTCCCT ACCTCTTGAT : 40347795 40347794 : GGGGCACTAT CCTTGCCCCC CAACATGATG GGAGGGACCA GAAACAGGCC : 40347745 40347744 : CAGGGCCCCG GGGATCTGAT GCCCGCATGC CTTCTGCCAG GAGTCCAGGG : 40347695 40347694 : TCCCCTCAGC ACCTCCCTAC TGGGGAAAGC AGTGCAGGAG CAGCGGGGCC : 40347645 40347644 : CCTGTGTTTC ATTCATGGCT GGGCTTTGTG ACTGTGGGCA GCGAGCTCAC : 40347595 40347594 : CTATTCTGAG CCTGTGTCCA TATAAAGGAG GAGTTGGAAG CGGAGAAGGT : 40347545 40347544 : TGATGTCCAT GAGGGAGATT GGATTCTGGG GTGAAGAAAG TGAGGGAAAG : 40347495 40347494 : AGCAGGCAGG TCTGGGCGCA AAGCACAGGT GACTGCCTGC CACCAGCTTG : 40347445 40347444 : TGACCCCCAT CAAGTTACTT TGACTTGCAC AGCTGTGAAG CGGTGGTCAT : 40347395 40347394 : AATAAAATTC ATTTCAAAAG GTGGTTACCT GGGATCAGAG GAATCCCCAG : 40347345 40347344 : GGGCATGGCG CTTCACTGAG CTGACAGGAC ATGCATGTGT GCCTTCAAGT : 40347295 40347294 : GCAGGAGGAC ATGTGCGTGT GTGTGTGTGT GTGTGCAACA GTGAGTGTAT : 40347245 40347244 : GCTTGTGGAT GCGCCTGTGT GAGCAGAAGC AGGTGCACCA ACCCTGATAA : 40347195 40347194 : GGCACCTTAG TAATGAGTTA AGGCAAAAGC CCACATCTGC TCATCCTCCA : 40347145 40347144 : GACAAGTCCT CTGTCTAAGG CCCCCCAACC CTTAATCCTC CTGCTGCTCT : 40347095 40347094 : ACTGGTCCTG GGTGGGGGTG GTCTCTGTGA CAGCTGCCTC AAGGGAGACT : 40347045 40347044 : GAGGCAGGTA TTCAAGTGTC CTCAGAAGAG CCTGGACCCA GGAATGTGTC : 40346995 VARIANTS : A : VARIANTS 40346994 : CCCCCACTCC AGGCTCCAGG ATGAAACCAA CCTGAGGCTG GAAGCCGAGA : 40346945 462 : GCTCCAGG ATGAAACCAA CCTGAGGCTG GAAGCCGAGA : 499 155 : L Q D E T N L R L E A E : 166 VARIANTS : N : VARIANTS 40346944 : ACAACCTGGC TGCCTATAGA CAGGTCAGGG AGGTGGAGGG GAGGGGCAGG : 40346895 500 : ACAACCTGGC TGCCTATAGA CAG : 522 167 : N N L A A Y R Q : 174 40346894 : GGAGGGAGGA AAGGATTGAT GGCCACCCAC CCAAACACAG CCCCCAAGCT : 40346845 40346844 : CAGCCCGCCA GAGCAATGTG CTGCTCCCCA CTGCCCCAGA AGGAGGGGTA : 40346795 VARIANTS : C : VARIANTS 40346794 : AGGCAAGGCT GAGGAATGGG GAGAAGGAGC CTGGGGCCCC AGTGGCCCTC : 40346745 VARIANTS : G : VARIANTS 40346744 : TACTCCTCAC CCCTCCTGCC ACTCCAGGAA GCAGATGAAG CCACCCTGGC : 40346695 523 : GAA GCAGATGAAG CCACCCTGGC : 545 175 : E A D E A T L A : 182 40346694 : CCGTCTGGAT CTGGAGAGGA AGATTGAGTC GCTGGAGGAG GAGATCCGGT : 40346645 546 : CCGTCTGGAT CTGGAGAGGA AGATTGAGTC GCTGGAGGAG GAGATCCGGT : 595 183 : R L D L E R K I E S L E E E I R : 198 VARIANTS : A : VARIANTS 40346644 : TCTTGAGGAA GATCCACGAG GAGGTGAGGC CAGGGCAGAG GGAGGAAAGC : 40346595 596 : TCTTGAGGAA GATCCACGAG GAG : 618 199 : F L R K I H E E : 206 VARIANTS : K : VARIANTS 40346594 : TCAACACAGA GATTGCAACT GAGAGAGGGA GAGACAGAGA CAGAGAAGCT : 40346545 40346544 : GAGACTGAGA GAGACACTCA GAGAGAGGAG AGAAACAGAG ATTGGCAGGT : 40346495 40346494 : AGAGACAGGA AATGAAAGAC AAACAGAAAG ACACTAAGGG AGACGGAAAG : 40346445 VARIANTS : T : VARIANTS 40346444 : AGACAAGAGA GCATTCGAAC TCCTGGCCGA GGGGCAGGCA GAAGAGGACA : 40346395 40346394 : CAATGGCGTG GGGAACCCCA GCTGTGGCCT GTACCCTGAG CCCTGGTACC : 40346345 VARIANTS : T C : VARIANTS VARIANTS : T A A : VARIANTS 40346344 : GCTTCTCTCA CCCTGGTCAG GAGGTTCGGG AACTCCAGGA GCAGCTGGCC : 40346295 619 : GAGGTTCGGG AACTCCAGGA GCAGCTGGCC : 648 207 : E V R E L Q E Q L A : 216 VARIANTS : K K : VARIANTS VARIANTS : Q : VARIANTS VARIANTS : C : VARIANTS VARIANTS : C : VARIANTS 40346294 : CGACAGCAGG TCCATGTGGA GCTTGACGTG GCCAAGCCAG ACCTCACCGC : 40346245 649 : CGACAGCAGG TCCATGTGGA GCTTGACGTG GCCAAGCCAG ACCTCACCGC : 698 217 : R Q Q V H V E L D V A K P D L T A : 233 VARIANTS : Q : VARIANTS VARIANTS : Q : VARIANTS VARIANTS : A : VARIANTS VARIANTS : TT : VARIANTS VARIANTS : C TC G T : VARIANTS 40346244 : AGCCCTGAAA GAGATCCGCA CGCAGTATGA GGCAATGGCG TCCAGCAACA : 40346195 699 : AGCCCTGAAA GAGATCCGCA CGCAGTATGA GGCAATGGCG TCCAGCAACA : 748 234 : A L K E I R T Q Y E A M A S S N : 249 VARIANTS : P P D V : VARIANTS VARIANTS : L : VARIANTS VARIANTS : H : VARIANTS VARIANTS : C : VARIANTS VARIANTS : C : VARIANTS VARIANTS : G T G C : VARIANTS 40346194 : TGCATGAAGC CGAAGAGTGG TACCGCTCCA AGGTAGCCCT GCCTGTGGGC : 40346145 749 : TGCATGAAGC CGAAGAGTGG TACCGCTCCA AG : 780 250 : M H E A E E W Y R S K : 260 VARIANTS : G C P : VARIANTS 40346144 : CAGCCTGCCT CCTCCAGGCA GCCCTTCTTG CTCTGTACAA GAGAATGGGG : 40346095 40346094 : GAAGGAGGGT GGAGGAAGCT GGGAGAATAT CCTCTCCAGG TGACTGACTT : 40346045 40346044 : TCACCAGAGA AGTGAGATGG CTTGCCCAGG GTCACACAGG CACTATTGCT : 40345995 40345994 : TTCAAAAGTA CCCATTATTA TTACTGCTAC TATTGCTATT ATTAGTAGTA : 40345945 40345944 : GCTGATACTG TTCTGTTCTA AGCCCTGTGC TTTTCATGGA TTACCTTACT : 40345895 40345894 : ATGAAGTAGG TGCTGTTCTT TGACAGATGA GAGAGCCGAA GTCCAGAGAG : 40345845 40345844 : GTTAACTAAT TTGCTCAAAG TCACACAGCT CCTAAGTGGT AGAGTTGGAT : 40345795 40345794 : TTCCAACTCT AGCACATCTC ACTTGGGAGC CTGCATTCCA TGCCTCTGCC : 40345745 40345744 : AGTCTGTTTT GGGTTACTGA GCCTCTACCA TATGCCAGGC ACCCCCCAGG : 40345695 40345694 : ACACAGAGAG GTGTCTGACC TGGAAGGTGT GATATTGACG TGCACCCAAA : 40345645 40345644 : CATAGTGCCC GTAGAGAACA CCACAGCTCA GAGCTTATAT GTAGTGTGGG : 40345595 40345594 : AGCCAGGAAA GACACTGTAG AGGGGGCATT TGGGCTAGGC AGGACAGGCA : 40345545 VARIANTS : A : VARIANTS 40345544 : CGCTGTGGAC AGGAAGAGAA GAAGGGAGGG CCATTCCTAG TGGAGGACAG : 40345495 40345494 : AGCCTGGAGG CAGAAAAGCA CAGAGAGGCA GGGCCCCAAG ATGCTAGCCT : 40345445 40345444 : AGCCAGGGCA CCTAGCTGAG GAGTGTGAGT GGCAGAAGCC ACTGGTGTCT : 40345395 40345394 : GAGCAGGGTG AGGGCCCGAT GGGGCTGGGA GGACCTCCCT GCAGGCAGGG : 40345345 40345344 : GAGAAAGGGC TATTAGAACC CAGGGTGAGG CCAGGCGAGG TGGCTCACAC : 40345295 40345294 : CTGTAATCCC AGCACTTTGG GAGGCCGAGG CATGCGGATC ACCTGAGGTC : 40345245 40345244 : AGCAGTTCAA GACTAGCCTG GTCAACATGG TGAAACCCCG TCTCTACTAA : 40345195 40345194 : AAATACAAAA TCAGCCGGGT GTAGTGGCGC ATGCCTGTAA TCCCAGCTAC : 40345145 40345144 : TCAGGTGGCT GGGGCAGGAG AATTGCTTGA ACCTGGGAGG CAGAGGTTGC : 40345095 40345094 : AGTGACCCGG GATTGTGCCA CTGACTTCCA ACCTGGGCGA CAAGAGCAAG : 40345045 40345044 : ACTCTGTCTC AAAATAAAAC AAAAAAAACA AAAAAACAAA AACACACAAA : 40344995 40344994 : ACACCCAGGC CTCCGCTCGC CTAAGACGAC AGCGTTCAGT CCCGCAGATG : 40344945 40344944 : CAGCTGTCAG TGTGGAAGGT TCTGGATTCT GTGGCACTGT TCATTCATTC : 40344895 40344894 : GCTTGCTGAC CAGGTGTTGT GCTAGGTGCT GAGGTCTGGC AGCCCGCTAC : 40344845 40344844 : CCTGCCCGCA TCCATGGGTC ACAGTTGTTG GGAAAAGTCC CAGCCAGGGC : 40344795 40344794 : CAACGTCCTG GGGTTAACTG GGGTGCTGCT CACCTCCCTG ATTTCCCAGA : 40344745 40344744 : GCCCGTGCCT GCCCATGGGC CCACACAGCC CCCCATATGT GTCCCCCACC : 40344695 VARIANTS : C T : VARIANTS 40344694 : TAGTTTGCAG ACCTGACAGA CGCTGCTGCC CGCAACGCGG AGCTGCTCCG : 40344645 781 : TTTGCAG ACCTGACAGA CGCTGCTGCC CGCAACGCGG AGCTGCTCCG : 827 261 : F A D L T D A A A R N A E L L R : 276 VARIANTS : P L : VARIANTS VARIANTS : G A : VARIANTS 40344644 : CCAGGCCAAG CACGAAGCCA ACGACTACCG GCGCCAGTTG CAGTCCTTGA : 40344595 828 : CCAGGCCAAG CACGAAGCCA ACGACTACCG GCGCCAGTTG CAGTCCTTGA : 877 277 : Q A K H E A N D Y R R Q L Q S L : 292 VARIANTS : E : VARIANTS VARIANTS : A : VARIANTS 40344594 : CCTGCGACCT GGAGTCTCTG CGCGGCACGG TGAGCGCGGC CAGGGCAGGA : 40344545 878 : CCTGCGACCT GGAGTCTCTG CGCGGCACG : 906 293 : T C D L E S L R G T : 302 VARIANTS : N : VARIANTS 40344544 : CGGGGACGGG CGGAGCAGGG ACGGCCACCC CAGGAGATGC CAGGGGAGAA : 40344495 VARIANTS : G C : VARIANTS 40344494 : GGGCCAGGGA CGAGGACCTG GGTCGAGGGC GGGGCCTGAA CGTTACCCCC : 40344445 40344444 : GGGCTAGAGG CGGGGCCTGG GGCCGGGGGC CGGGCCTCGA AACCTCCCCA : 40344395 40344394 : AGTCGGGTCG GGGCTCCGCG GGACCGGCCG GCTCCATCCC ACAGAACGAG : 40344345 907 : AACGAG : 912 303 : N E : 304 40344344 : TCCCTGGAGA GGCAGATGCG CGAGCAGGAG GAGCGGCACG TGCGGGAGGC : 40344295 913 : TCCCTGGAGA GGCAGATGCG CGAGCAGGAG GAGCGGCACG TGCGGGAGGC : 962 305 : S L E R Q M R E Q E E R H V R E A : 321 VARIANTS : G C A : VARIANTS 40344294 : GGCCAGTTAT CAGGAGGCGC TGGCGCGGCT GGAGGAAGAG GGGCAGAGCC : 40344245 963 : GGCCAGTTAT CAGGAGGCGC TGGCGCGGCT GGAGGAAGAG GGGCAGAGCC : 1012 322 : A S Y Q E A L A R L E E E G Q S : 337 VARIANTS : G P K : VARIANTS VARIANTS : C : VARIANTS 40344244 : TCAAGGACGA GATGGCCCGC CACTTGCAGG AGTACCAGGA CCTGCTCAAT : 40344195 1013 : TCAAGGACGA GATGGCCCGC CACTTGCAGG AGTACCAGGA CCTGCTCAAT : 1062 338 : L K D E M A R H L Q E Y Q D L L N : 354 VARIANTS : iiii P : VARIANTS VARIANTS : GC T C CT CG G : VARIANTS 40344194 : GTCAAGCTGG CCCTGGACAT CGAGATCGCC ACCTACAGGA AGCTGCTAGA : 40344145 1063 : GTCAAGCTGG CCCTGGACAT CGAGATCGCC ACCTACAGGA AGCTGCTAGA : 1112 355 : V K L A L D I E I A T Y R K L L E : 371 VARIANTS : P V D P C G : VARIANTS VARIANTS : V V H : VARIANTS VARIANTS : A : VARIANTS VARIANTS : C G T : VARIANTS 40344144 : GGGCGAGGAG AACCGGTGAG CCCTCATCAC AGCCCCTGGG GAAGTCTCCC : 40344095 1113 : GGGCGAGGAG AACCG : 1127 372 : G E E N R : 376 VARIANTS : Q G W : VARIANTS VARIANTS : K : VARIANTS 40344094 : TGCTGCCTCA CGGTAGAGCT CATCTTGCTC CCTTCAGGGA CTGAGTCTTT : 40344045 40344044 : TTCAGCCTTG TGTGCAGATC CCTTCCCACC TCAATGCCCA GCACAGTGCC : 40343995 40343994 : TGCCTCACAC ATAGCAGGCA GTCACTAGAT GTTTGATGAC TGAATGGATG : 40343945 40343944 : GATGGATTCA ACCAATATTG ATTAGGCCTC AAGGCCAAGG ACTTGGGTCA : 40343895 40343894 : CCCTCCAAAC TAAGAGGCAT ACTCCCCATC TTCCCAGCCA AGATTGGACT : 40343845 40343844 : CCTCACCTCA CCCATCTCTT CTGCCTCCTT GGAACTTTCT TCACCACTTT : 40343795 40343794 : CCCCTCCCTT TTCCATCTTC CTTCAGATAG ACATGCGCCC CTCCCAGATA : 40343745 VARIANTS : T : VARIANTS 40343744 : ACACTCAAGC CCCTTGCAGA CGTTTGGAAC TCCAGATAGC ACGTTGGCTG : 40343695 40343694 : CTGGGGAAAA AGCTAGGAGA TGGAGTTAGA CTTTCCTGGC AAGGAAAAGG : 40343645 VARIANTS : G : VARIANTS 40343644 : GCGTTCAAGT TGTCATGATG GCCCCGCACC AAGACCCAGC CTAGGGGTGT : 40343595 40343594 : CCCAGGCAGC CCGGGCAGCC CTCTCCCTCT GCTTTCTTTC AGGATCACCA : 40343545 1128 : GATCACCA : 1135 377 : I T : 378 VARIANTS : T : VARIANTS 40343544 : TTCCCGTGCA GACCTTCTCC AACCTGCAGA TTCGAGGTCA GTACAGCAGG : 40343495 1136 : TTCCCGTGCA GACCTTCTCC AACCTGCAGA TTCGAG : 1171 379 : I P V Q T F S N L Q I R : 390 VARIANTS : I : VARIANTS 40343494 : GCCTCGTGGG AAGGGCACTG GAGTCCTGCC CCCTCCTCCA GGGCCTGTAG : 40343445 40343444 : GTTGCTCCAG ACTGGGACTG AGGATCAGGG CAAAGGGATC CAGCTCTCCC : 40343395 40343394 : TGGGGGCCTT CGTGACACTG CAGCGCTCCT AGCCAGAGCC TATCATACCA : 40343345 40343344 : GGGTACTTCT AGGTGGGGCT TGCAGCTGCC CCTGTCCTGC TAGGCCCTGG : 40343295 40343294 : TCCCTCTTCC CCTCCCTGCA CCCCATTCGA CAGCAGAACT GGGTGAGAGC : 40343245 40343244 : TTGACATCTG CCCTGTCTGC AGATCCCTGA GCAAGCACTG CCCTTCTGAG : 40343195 40343194 : TGTTTTCTGT TTTTGTTTTT TTAACTGCTT GTCACTACAG GGGGCAAAAG : 40343145 40343144 : CACCAAAGAC GGGGAAAATC ACAAGGTCAC AAGATATCTC AAAAGCCTCA : 40343095 40343094 : CAATACGAGT TATACCAATA CAGGCTCACC AGATTGTAAA TGGAACGCCG : 40343045 VARIANTS : T A : VARIANTS 40343044 : CCGGCTCGCG GTTAGCTGCC TGCCTCTCAG ACACGGCGCT TTGCCCAGCT : 40342995 40342994 : TGACAGGGAG TGAGCCTCAC CCACCCCATC CTCCCAATCC CCCTGAGTTC : 40342945 40342944 : CCTCTTCCCA GGCTTCCCCT AAAGGGCCTG GACTGCGTCA TTTTCCCAGG : 40342895 40342894 : AACTGCAGTG CCCAGCCCAG GACGTGGTAC AGAGTAACTG TACATTAAAC : 40342845 40342844 : TGGCAGAGCT TGTTAGTGGT AAAGGTGGTG AGTCCTTGGG TGCGCAGTGG : 40342795 40342794 : AGCTGCTCTG GGGCCTCTGA GCAAGCAGCA GCCTCTGTCT CACCTCTTCC : 40342745 40342744 : TGTCACTGGG AGGGCCCCTT GGGTCTCGCT GTGCCTGGAC GCCAGGCTCT : 40342695 40342694 : CTGCTTTATT CTTTCATCCC TGAGGCTCCA TCGCTCAGCT CAGTGCTGAC : 40342645 40342644 : TCAGTTCAGA GGATTCTTCC CTCAGGACCG CAGCTCTTGC AGTGAATAAA : 40342595 40342594 : GTTTTATGTT CCCTGCTCTT AATGTTAAAT ATTAGTGAAT GTGACGTGTT : 40342545 40342544 : ATATTTTTCT CTCTCGGGCG GGGCGGGGGG AGGGGGGAGC TAAATTACTT : 40342495 40342494 : TTTACTTGCA TTGGCCCTGA AATGATTCTT AGCTAAGGAA CAAAATTCCT : 40342445 40342444 : CTTCTTCTGG ACTAGAATAT TTAGGACCAC TAGATATGCA TGTCTCAGGA : 40342395 40342394 : CTTAATTCAG CATCAGAAAG GCTAACCAGG CTGACTAGTA GAGGTAATAC : 40342345 40342344 : TGCCAAATCC TAGATAGTCA CAGGTCACTA AAGCACAGAT AAATGGCAGA : 40342295 40342294 : GAGAAGTAGG AAAGAGGAAA GGGGACAGGA AAGGGACCTA TGTGTATTGA : 40342245 40342244 : GCACTAATAT GTGCCACATG TTTAACAGCC TTTATTTTAG TTAATTGTCT : 40342195 40342194 : CCTCTCTCCC ACCTAGAGAA GTAGGCCCCA TCATCCTTAT TTTACAGATG : 40342145 40342144 : AGGAAACTGA GGCTGGGAGA GGTCAATTAA CTTGCCCAGA GTCATGTGGC : 40342095 40342094 : TGGTTGGTGG CTAAGTTGGG ACTTCTTGAG CTCTGGTCTC CTGATCCTTC : 40342045 40342044 : CTTCCTTCCT TCCTTCTTTT CTTCCTTCCT TCCTTCTTTC CTTCCTTCCT : 40341995 40341994 : TCGGCAGAGC GTCCCTCTGT CACTCAGGCT GGAATGCAGT AGTGCAATCT : 40341945 40341944 : TGGCTCACTG CAACCTCCAC CTCCCAGGTT CAAGCAATTC TCGTGCCTCA : 40341895 40341894 : GACTCCCGAG TAAGGGGATT ACAGGTGCGA GCCACCACAC CTGGCTAATC : 40341845 40341844 : TTTCTTTTTC TTTCTTTCTT TCTTTCTTCC TTCCTTCCTT CCTTCCTTCC : 40341795 40341794 : TTTCTCTTTC CTGCTTGCTT GCTTGCTTGC TTGCCTGCTT TCGACGGAGT : 40341745 40341744 : CTTACTCTGT TGCTCAGGCT GGAGTGCAGT GGCACGATCG CAGCTTACTG : 40341695 40341694 : CAACCTCCGC CTCCCAGGTT CAAGTGATTC TCCTCTCTCA GCCTCCTGAG : 40341645 40341644 : TAGCTGGGAC TACAGGCACC TGTCACCATG CCTGACTAAT TTTTGTATTT : 40341595 40341594 : TTAGTAGAGA CAGGGTTTCA CCATATTAGT CAGGCTGGTC TCAAACTCCT : 40341545 40341544 : GACCTCAGGC GATCCACCTG CCTCGGCCTC CCAAAGTGCT GGGATTACAG : 40341495 40341494 : GTGTGAGCCA CCATGCCTGG CCTATTTTTT GTATTTTTAG TAGAGGTTTC : 40341445 40341444 : ACTATGTTGG CCAGGCTGGT CTCGAACTCC TGGCGTCAGG TGATCCACCT : 40341395 VARIANTS : G : VARIANTS 40341394 : GCCTCAGCCT CCCAAAATGA TGGCATTATA GGTGTGAGCC ACCGCACCCC : 40341345 40341344 : TCCTGGTCTC CTGATTTCAA TACCGTGCTG GGTTTTCAGA AAGCCAGGTG : 40341295 40341294 : CCAGGCCAGG GCTTGCAGAG GGGCTGAAAT GAAGCCAGGC CAGAAGACAG : 40341245 40341244 : AGCAGCCAGG ACTCTGGCAG CAGCACTATT GGGATTTGGG GGCTCTCCAG : 40341195 40341194 : CCCGTTTGGA AGAGCCTAGG CTCTCTCTGC TCGGTTGCAT AGGTTCTCAT : 40341145 40341144 : ACTCATGATG GGGAGGGGGG TGCGATGGGG AAGCCGGGCA TGGGAGAGGA : 40341095 40341094 : TGGCTCATGC CCTGAAAGTC CATGAGAGGC CTCCTCTCCC CACATCTGCA : 40341045 VARIANTS : T : VARIANTS 40341044 : GAAACCAGCC TGGACACCAA GTCTGTGTCA GAAGGCCACC TCAAGAGGAA : 40340995 1172 : AAACCAGCC TGGACACCAA GTCTGTGTCA GAAGGCCACC TCAAGAGGAA : 1220 391 : E T S L D T K S V S E G H L K R N : 407 VARIANTS : I Y : VARIANTS VARIANTS : Tddd : VARIANTS 40340994 : CATCGTGGTG AAGACCGTGG AGATGCGGGA TGGAGAGGTA AGGAGGGATT : 40340945 1221 : CATCGTGGTG AAGACCGTGG AGATGCGGGA TGGAGAG : 1257 408 : I V V K T V E M R D G E : 419 VARIANTS : W f : VARIANTS 40340944 : TGGGCCCAGT CAGGCTCTGG CTGGCCCCAG GGATTCTCAA GGCCAGGCCA : 40340895 40340894 : TGGAGGAAAG CCTGGGGCTG GCACATAGAA GGTTCCCAGC AACTCCCAGT : 40340845 40340844 : AGCTCCCCAG GGAATTCTGG AGGAGAGCAA GGAAACTGAA TGTAATTCCG : 40340795 40340794 : TTTCCTCAGT CCCTCCATAG GCTGTTCTAA GGGGAGCCTT GGTACCAAAG : 40340745 40340744 : CCACTAGATG GGATCCTAAT ACACACTCTC TCTTTCTCAC CCTCAAACTC : 40340695 40340694 : GGGGGCCTTG CTTGCCAGGG AGAGAAAGAG AATTAAAGTT AGTAGCTTTC : 40340645 40340644 : ACTTCCAACT CTAGCAGACA CAGTTGGGGA TGGGGAGGGC TTTCCATTTC : 40340595 40340594 : CAGCTTGGTA AAAGGAAACT ACCAGGGGAA TGGGAAGAGG GGATTTGGCG : 40340545 40340544 : TATCCGCCAC GCCACTCCAA CCACAGTGGG AGCTCATCTT ACTCCAGCAG : 40340495 40340494 : CTTACCACTC GCCAGGCATG ACGCTAAATG CTTTCCCAGT GTTATCTCAC : 40340445 40340444 : CACCCCCTCT GTCCACCACG CAAGGCAGCT GTGGTTACTA TCAAGAAAAG : 40340395 VARIANTS : T : VARIANTS 40340394 : TAAGACCTGG GAAGTCGGGG ACTTCCCAAG GTTACACAGC CTCGTGGTGG : 40340345 40340344 : TGGACCTGGG GTCTGTGTGA ACTCCTAACT GTTGCACTGT GCACGTTCCC : 40340295 40340294 : TGTCCCCTGC AGGTCATTAA GGAGTCCAAG CAGGAGCACA AGGATGTGAT : 40340245 1258 : GTCATTAA GGAGTCCAAG CAGGAGCACA AGGATGTGAT : 1295 420 : V I K E S K Q E H K D V M : 432 VARIANTS : G : VARIANTS VARIANTS : G : VARIANTS 40340244 : GTGAGGCAGG ACCCACCTGG TGGCCTCTGC CCCGTCTCAT GAGGGGCCCG : 40340195 1296 : GTGAGGCAGG ACCCACCTGG TGGCCTCTGC CCCGTCTCAT GAGGGGCCCG : *46 40340194 : AGCAGAAGCA GGATAGTTGC TCCGCCTCTG CTGGCACATT TCCCCAGACC : 40340145 *47 : AGCAGAAGCA GGATAGTTGC TCCGCCTCTG CTGGCACATT TCCCCAGACC : *96 40340144 : TGAGCTCCCC ACCACCCCAG CTGCTCCCCT CCCTCCTCTG TCCCTAGGTC : 40340095 *97 : TGAGCTCCCC ACCACCCCAG CTGCTCCCCT CCCTCCTCTG TCCCTAGGTC : *146 40340094 : AGCTTGCTGC CCTAGGCTCC GTCAGTATCA GGCCTGCCAG ACGGCACCCA : 40340045 *147 : AGCTTGCTGC CCTAGGCTCC GTCAGTATCA GGCCTGCCAG ACGGCACCCA : *196 40340044 : CCCAGCACCC AGCAACTCCA ACTAACAAGA AACTCACCCC CAAGGGGCAG : 40339995 *197 : CCCAGCACCC AGCAACTCCA ACTAACAAGA AACTCACCCC CAAGGGGCAG : *246 40339994 : TCTGGAGGGG CATGGCCAGC AGCTTGCGTT AGAATGAGGA GGAAGGAGAG : 40339945 *247 : TCTGGAGGGG CATGGCCAGC AGCTTGCGTT AGAATGAGGA GGAAGGAGAG : *296 40339944 : AAGGGGAGGA GGGCGGGGGG CACCTACTAC ATCGCCCTCC ACATCCCTGA : 40339895 *297 : AAGGGGAGGA GGGCGGGGGG CACCTACTAC ATCGCCCTCC ACATCCCTGA : *346 40339894 : TTCCTGTTGT TATGGAAACT GTTGCCAGAG ATGGAGGTTC TCTCGGAGTA : 40339845 *347 : TTCCTGTTGT TATGGAAACT GTTGCCAGAG ATGGAGGTTC TCTCGGAGTA : *396 40339844 : TCTGGGAACT GTGCCTTTGA GTTTCCTCAG GCTGCTGGAG GAAAACTGAG : 40339795 *397 : TCTGGGAACT GTGCCTTTGA GTTTCCTCAG GCTGCTGGAG GAAAACTGAG : *446 40339794 : ACTCAGACAG GAAAGGGAAG GCCCCACAGA CAAGGTAGCC CTGGCCAGAG : 40339745 *447 : ACTCAGACAG GAAAGGGAAG GCCCCACAGA CAAGGTAGCC CTGGCCAGAG : *496 40339744 : GCTTGTTTTG TCTTTTGGTT TTTATGAGGT GGGATATCCC TATGCTGCCT : 40339695 *497 : GCTTGTTTTG TCTTTTGGTT TTTATGAGGT GGGATATCCC TATGCTGCCT : *546 40339694 : AGGCTGACCT TGAACTCCTG GGCTCAAGCA GTCTACCCAC CTCAGCCTCC : 40339645 *547 : AGGCTGACCT TGAACTCCTG GGCTCAAGCA GTCTACCCAC CTCAGCCTCC : *596 40339644 : TGTGTAGCTG GGATTATAGA TTGGAGCCAC CATGCCCAGC TCAGAGGGTT : 40339595 *597 : TGTGTAGCTG GGATTATAGA TTGGAGCCAC CATGCCCAGC TCAGAGGGTT : *646 40339594 : GTTCTCCTAG ACTGACCCTG ATCAGTCTAA GATGGGTGGG GACGTCCTGC : 40339545 *647 : GTTCTCCTAG ACTGACCCTG ATCAGTCTAA GATGGGTGGG GACGTCCTGC : *696 40339544 : CACCTGGGGC AGTCACCTGC CCAGATCCCA GAAGGACCTC CTGAGCGATG : 40339495 *697 : CACCTGGGGC AGTCACCTGC CCAGATCCCA GAAGGACCTC CTGAGCGATG : *746 40339494 : ACTCAAGTGT CTCAGTCCAC CTGAGCTGCC ATCCAGGGAT GCCATCTGTG : 40339445 *747 : ACTCAAGTGT CTCAGTCCAC CTGAGCTGCC ATCCAGGGAT GCCATCTGTG : *796 40339444 : GGCACGCTGT GGGCAGGTGG GAGCTTGATT CTCAGCACTT GGGGGATCTG : 40339395 *797 : GGCACGCTGT GGGCAGGTGG GAGCTTGATT CTCAGCACTT GGGGGATCTG : *846 40339394 : TTGTGTACGT GGAGAGGGAT GAGGTGCTGG GAGGGATAGA GGGGGGCTGC : 40339345 *847 : TTGTGTACGT GGAGAGGGAT GAGGTGCTGG GAGGGATAGA GGGGGGCTGC : *896 40339344 : CTGGCCCCCA GCTGTGGGTA CAGAGAGGTC AAGCCCAGGA GGACTGCCCC : 40339295 *897 : CTGGCCCCCA GCTGTGGGTA CAGAGAGGTC AAGCCCAGGA GGACTGCCCC : *946 40339294 : GTGCAGACTG GAGGGGACGC TGGTAGAGAT GGAGGAGGAG GCAATTGGGA : 40339245 *947 : GTGCAGACTG GAGGGGACGC TGGTAGAGAT GGAGGAGGAG GCAATTGGGA : *996 40339244 : TGGCGCTAGG CATACAAGTA GGGGTTGTGG GTGACCAGTT GCACTTGGCC : 40339195 *997 : TGGCGCTAGG CATACAAGTA GGGGTTGTGG GTGACCAGTT GCACTTGGCC : *1046 40339194 : TCTGGATTGT GGGAATTAAG GAAGTGACTC ATCCTCTTGA AGATGCTGAA : 40339145 *1047 : TCTGGATTGT GGGAATTAAG GAAGTGACTC ATCCTCTTGA AGATGCTGAA : *1096 40339144 : ACAGGAGAGA AAGGGGATGT ATCCATGGGG GCAGGGCATG ACTTTGTCCC : 40339095 *1097 : ACAGGAGAGA AAGGGGATGT ATCCATGGGG GCAGGGCATG ACTTTGTCCC : *1146 40339094 : ATTTCTAAAG GCCTCTTCCT TGCTGTGTCA TACCAGGCCG CCCCAGCCTC : 40339045 *1147 : ATTTCTAAAG GCCTCTTCCT TGCTGTGTCA TACCAGGCCG CCCCAGCCTC : *1196 40339044 : TGAGCCCCTG GGACTGCTGC TTCTTAACCC CAGTAAGCCA CTGCCACACG : 40338995 *1197 : TGAGCCCCTG GGACTGCTGC TTCTTAACCC CAGTAAGCCA CTGCCACACG : *1246 40338994 : TCTGACCCTC TCCACCCCAT AGTGACCGGC TGCTTTTCCC TAAGCCAAGG : 40338945 *1247 : TCTGACCCTC TCCACCCCAT AGTGACCGGC TGCTTTTCCC TAAGCCAAGG : *1296 40338944 : GCCTCTTGCG GTCCCTTCTT ACTCACACAC AAAATGTACC CAGTATTCTA : 40338895 *1297 : GCCTCTTGCG GTCCCTTCTT ACTCACACAC AAAATGTACC CAGTATTCTA : *1346 40338894 : GGTAGTGCCC TATTTTACAA TTGTAAAACT GAGGCACGAG CAAAGTGAAG : 40338845 *1347 : GGTAGTGCCC TATTTTACAA TTGTAAAACT GAGGCACGAG CAAAGTGAAG : *1396 40338844 : ACACTGGCTC ATATTCCTGC AGCCTGGAGG CCGGGTGCTC AGGGCTGACA : 40338795 *1397 : ACACTGGCTC ATATTCCTGC AGCCTGGAGG CCGGGTGCTC AGGGCTGACA : *1446 40338794 : CGTCCACCCC AGTGCACCCA CTCTGCTTTG ACTGAGCAGA CTGGTGAGCA : 40338745 *1447 : CGTCCACCCC AGTGCACCCA CTCTGCTTTG ACTGAGCAGA CTGGTGAGCA : *1496 40338744 : GACTGGTGGG ATCTGTGCCC AGAGATGGGA CTGGGAGGGC CCACTTCAGG : 40338695 *1497 : GACTGGTGGG ATCTGTGCCC AGAGATGGGA CTGGGAGGGC CCACTTCAGG : *1546 40338694 : GTTCTCCTCT CCCCTCTAAG GCCGAAGAAG GGTCCTTCCC TCTCCCCAAG : 40338645 *1547 : GTTCTCCTCT CCCCTCTAAG GCCGAAGAAG GGTCCTTCCC TCTCCCCAAG : *1596 40338644 : ACTTGGTGTC CTTTCCCTCC ACTCCTTCCT GCCACCTGCT GCTGCTGCTG : 40338595 *1597 : ACTTGGTGTC CTTTCCCTCC ACTTCCTCCT GCCACCTGCT GCTGCTGCTG : *1646 40338594 : CTGCTAATCT TCAGGGCACT GCTGCTGCCT TTAGTCGCTG AGGAAAAATA : 40338545 *1647 : CTGCTAATCT TCAGGGCACT GCTGCTGCCT TTAGTCGCTG AGGAAAAATA : *1696 40338544 : AAGACAAATG CTGCGCCCTT CCCCAG : 40338519 *1697 : AAGACAAATG CTGCGCCCTT CCCCAG : *1722 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 16:59:28 RefSeq ID NM_002055.2 GI 24430142 Length 3035 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -14 AGAGCCAGAG CAGGATGGAG AGGAGACGCA TCACCTCCGC TGCTCGCCGC 36 37 TCCTACGTCT CCTCAGGGGA GATGATGGTG GGGGGCCTGG CTCCTGGCCG 86 87 CCGTCTGGGT CCTGGCACCC GCCTCTCCCT GGCTCGAATG CCCCCTCCAC 136 137 TCCCGACCCG GGTGGATTTC TCCCTGGCTG GGGCACTCAA TGCTGGCTTC 186 187 AAGGAGACCC GGGCCAGTGA GCGGGCAGAG ATGATGGAGC TCAATGACCG 236 237 CTTTGCCAGC TACATCGAGA AGGTTCGCTT CCTGGAACAG CAAAACAAGG 286 287 CGCTGGCTGC TGAGCTGAAC CAGCTGCGGG CCAAGGAGCC CACCAAGCTG 336 337 GCAGACGTCT ACCAGGCTGA GCTGCGAGAG CTGCGGCTGC GGCTCGATCA 386 387 ACTCACCGCC AACAGCGCCC GGCTGGAGGT TGAGAGGGAC AATCTGGCAC 436 437 AGGACCTGGC CACTGTGAGG CAGAAGCTCC AGGATGAAAC CAACCTGAGG 486 487 CTGGAAGCCG AGAACAACCT GGCTGCCTAT AGACAGGAAG CAGATGAAGC 536 537 CACCCTGGCC CGTCTGGATC TGGAGAGGAA GATTGAGTCG CTGGAGGAGG 586 587 AGATCCGGTT CTTGAGGAAG ATCCACGAGG AGGAGGTTCG GGAACTCCAG 636 637 GAGCAGCTGG CCCGACAGCA GGTCCATGTG GAGCTTGACG TGGCCAAGCC 686 687 AGACCTCACC GCAGCCCTGA AAGAGATCCG CACGCAGTAT GAGGCAATGG 736 737 CGTCCAGCAA CATGCATGAA GCCGAAGAGT GGTACCGCTC CAAGTTTGCA 786 787 GACCTGACAG ACGCTGCTGC CCGCAACGCG GAGCTGCTCC GCCAGGCCAA 836 837 GCACGAAGCC AACGACTACC GGCGCCAGTT GCAGTCCTTG ACCTGCGACC 886 887 TGGAGTCTCT GCGCGGCACG AACGAGTCCC TGGAGAGGCA GATGCGCGAG 936 937 CAGGAGGAGC GGCACGTGCG GGAGGCGGCC AGTTATCAGG AGGCGCTGGC 986 987 GCGGCTGGAG GAAGAGGGGC AGAGCCTCAA GGACGAGATG GCCCGCCACT 1036 1037 TGCAGGAGTA CCAGGACCTG CTCAATGTCA AGCTGGCCCT GGACATCGAG 1086 1087 ATCGCCACCT ACAGGAAGCT GCTAGAGGGC GAGGAGAACC GGATCACCAT 1136 1137 TCCCGTGCAG ACCTTCTCCA ACCTGCAGAT TCGAGAAACC AGCCTGGACA 1186 1187 CCAAGTCTGT GTCAGAAGGC CACCTCAAGA GGAACATCGT GGTGAAGACC 1236 1237 GTGGAGATGC GGGATGGAGA GGTCATTAAG GAGTCCAAGC AGGAGCACAA 1286 1287 GGATGTGATG TGAGGCAGGA CCCACCTGGT GGCCTCTGCC CCGTCTCATG *37 *38 AGGGGCCCGA GCAGAAGCAG GATAGTTGCT CCGCCTCTGC TGGCACATTT *87 *88 CCCCAGACCT GAGCTCCCCA CCACCCCAGC TGCTCCCCTC CCTCCTCTGT *137 *138 CCCTAGGTCA GCTTGCTGCC CTAGGCTCCG TCAGTATCAG GCCTGCCAGA *187 *188 CGGCACCCAC CCAGCACCCA GCAACTCCAA CTAACAAGAA ACTCACCCCC *237 *238 AAGGGGCAGT CTGGAGGGGC ATGGCCAGCA GCTTGCGTTA GAATGAGGAG *287 *288 GAAGGAGAGA AGGGGAGGAG GGCGGGGGGC ACCTACTACA TCGCCCTCCA *337 *338 CATCCCTGAT TCCTGTTGTT ATGGAAACTG TTGCCAGAGA TGGAGGTTCT *387 *388 CTCGGAGTAT CTGGGAACTG TGCCTTTGAG TTTCCTCAGG CTGCTGGAGG *437 *438 AAAACTGAGA CTCAGACAGG AAAGGGAAGG CCCCACAGAC AAGGTAGCCC *487 *488 TGGCCAGAGG CTTGTTTTGT CTTTTGGTTT TTATGAGGTG GGATATCCCT *537 *538 ATGCTGCCTA GGCTGACCTT GAACTCCTGG GCTCAAGCAG TCTACCCACC *587 *588 TCAGCCTCCT GTGTAGCTGG GATTATAGAT TGGAGCCACC ATGCCCAGCT *637 *638 CAGAGGGTTG TTCTCCTAGA CTGACCCTGA TCAGTCTAAG ATGGGTGGGG *687 *688 ACGTCCTGCC ACCTGGGGCA GTCACCTGCC CAGATCCCAG AAGGACCTCC *737 *738 TGAGCGATGA CTCAAGTGTC TCAGTCCACC TGAGCTGCCA TCCAGGGATG *787 *788 CCATCTGTGG GCACGCTGTG GGCAGGTGGG AGCTTGATTC TCAGCACTTG *837 *838 GGGGATCTGT TGTGTACGTG GAGAGGGATG AGGTGCTGGG AGGGATAGAG *887 *888 GGGGGCTGCC TGGCCCCCAG CTGTGGGTAC AGAGAGGTCA AGCCCAGGAG *937 *938 GACTGCCCCG TGCAGACTGG AGGGGACGCT GGTAGAGATG GAGGAGGAGG *987 *988 CAATTGGGAT GGCGCTAGGC ATACAAGTAG GGGTTGTGGG TGACCAGTTG *1037 *1038 CACTTGGCCT CTGGATTGTG GGAATTAAGG AAGTGACTCA TCCTCTTGAA *1087 *1088 GATGCTGAAA CAGGAGAGAA AGGGGATGTA TCCATGGGGG CAGGGCATGA *1137 *1138 CTTTGTCCCA TTTCTAAAGG CCTCTTCCTT GCTGTGTCAT ACCAGGCCGC *1187 *1188 CCCAGCCTCT GAGCCCCTGG GACTGCTGCT TCTTAACCCC AGTAAGCCAC *1237 *1238 TGCCACACGT CTGACCCTCT CCACCCCATA GTGACCGGCT GCTTTTCCCT *1287 *1288 AAGCCAAGGG CCTCTTGCGG TCCCTTCTTA CTCACACACA AAATGTACCC *1337 *1338 AGTATTCTAG GTAGTGCCCT ATTTTACAAT TGTAAAACTG AGGCACGAGC *1387 *1388 AAAGTGAAGA CACTGGCTCA TATTCCTGCA GCCTGGAGGC CGGGTGCTCA *1437 *1438 GGGCTGACAC GTCCACCCCA GTGCACCCAC TCTGCTTTGA CTGAGCAGAC *1487 *1488 TGGTGAGCAG ACTGGTGGGA TCTGTGCCCA GAGATGGGAC TGGGAGGGCC *1537 *1538 CACTTCAGGG TTCTCCTCTC CCCTCTAAGG CCGAAGAAGG GTCCTTCCCT *1587 *1588 CTCCCCAAGA CTTGGTGTCC TTTCCCTCCA CTTCCTCCTG CCACCTGCTG *1637 *1638 CTGCTGCTGC TGCTAATCTT CAGGGCACTG CTGCTGCCTT TAGTCGCTGA *1687 *1688 GGAAAAATAA AGACAAATGC TGCGCCCTTC CCCAG Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 16:59:28 RefSeq ID NP_002046.1 GI 4503979 Isoelectric Point 5.2047 Molecular Weight 49880.1 Daltons Length 432 amino acids Download File | Text Sequence 1 MERRRITSAA RRSYVSSGEM MVGGLAPGRR LGPGTRLSLA RMPPPLPTRV 50 51 DFSLAGALNA GFKETRASER AEMMELNDRF ASYIEKVRFL EQQNKALAAE 100 101 LNQLRAKEPT KLADVYQAEL RELRLRLDQL TANSARLEVE RDNLAQDLAT 150 151 VRQKLQDETN LRLEAENNLA AYRQEADEAT LARLDLERKI ESLEEEIRFL 200 201 RKIHEEEVRE LQEQLARQQV HVELDVAKPD LTAALKEIRT QYEAMASSNM 250 251 HEAEEWYRSK FADLTDAAAR NAELLRQAKH EANDYRRQLQ SLTCDLESLR 300 301 GTNESLERQM REQEERHVRE AASYQEALAR LEEEGQSLKD EMARHLQEYQ 350 351 DLLNVKLALD IEIATYRKLL EGEENRITIP VQTFSNLQIR ETSLDTKSVS 400 401 EGHLKRNIVV KTVEMRDGEV IKESKQEHKD VM Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 69 1A 70 104 L1 105 112 1B 113 213 L12 214 229 2A 230 248 L2 249 256 2B 257 377 Tail 378 432 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 10:20:12 Clone Name Species Reported Specificity Epitope Reference 17βG3 mouse GFAP, K1, K10, vimentin - Gown and Vogel, 1984 1B4 mouse GFAP - McLendon et al, 1986 2.2B10 rat GFAP - Lee et al, 1984, Cohen et al, 1991 2E1 mouse GFAP - McLendon et al, 1986 43βE8 mouse GFAP, vimentin - Gown and Vogel, 1984 4A11 mouse GFAP - McLendon et al, 1986 G7-19 mouse GFAP - - GA5 mouse GFAP - - GF-01 mouse GFAP - Lukás et al, 1989 GF-02 mouse GFAP - Porchet et al, 2003 GF12.23 mouse GFAP - Achstätter et al, 1986, Gould et al, 1990 GF12.24 mouse GFAP - Achstätter et al, 1986, Gould et al, 1990 KT13 mouse GFAP includes Ser(P)-13 Sekimata et al, 1996 KT34 mouse GFAP includes Ser(P)-34 Sekimata et al, 1996 MO389 mouse GFAP - Sekimata et al, 1996 SMI-24 mouse GFAP - - SMI21 mouse GFAP - - SMI22 mouse GFAP - - TMG7 rat GFAP includes Thr(P)-7 Goto et al, 1999, Goto et al, 2000 YC10 mouse GFAP - Yano et al, 1991 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 1554. Information last updated on 2007-08-17 12:21:24 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Gallus gallus 419969 XM_418091.2 XP_418091.2 Vertebrates Rattus norvegicus 24387 NM_017009.1 NP_058705.1 Rodents Mus musculus 14580 NM_010277.2 NP_034407.2 Rodents Pan troglodytes 454741 XM_511561.2 XP_511561.2 Primates Canis familiaris 480495 XM_843285.1 XP_848378.1 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 2009-11-13 14:23:12 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Alexander disease #203450 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 2009-11-13 14:23:12 * 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 9223 c.? Unknown p.Glu348_Tyr349insHisLeu Insertion 2B Alexander disease Li et al, 2005 14069 c.302T>C Substitution p.Leu101Pro Substitution - Alexander disease Kaneko et al, 2009 13256 c.113C>A Substitution p.Ser398Tyr Substitution Tail Alexander disease Pareyson et al, 2008 9590 c.[715C>T; 140C>T] Substitution p.[Arg239Cys; Pro47Leu] Substitution Head, 2A Alexander disease Brenner et al, 2001 13309 c.141G>A Substitution p.= Silent Not affected Alexander disease Balbi et al, 2008 8913 c.187A>C Substitution p.Lys63Gln Substitution Head Alexander disease Li et al, 2005 8949 c.187A>C Substitution p.Lys63Gln Substitution Head Alexander disease van der Knaap et al, 2005 9239 c.208C>T Substitution p.Arg70Trp Substitution 1A Alexander disease Salvi et al, 2005 12431 c.208C>T Substitution p.Arg70Trp Substitution 1A Alexander disease Sreedharan et al, 2007 13262 c.208C>T Substitution p.Arg70Trp Substitution 1A Alexander disease Caroli et al, 2007 13264 c.209G>A Substitution p.Arg70Gln Substitution 1A Alexander disease Caroli et al, 2007 13298 c.209G>A Substitution p.Arg70Gln Substitution 1A Alexander disease Sechi et al, 2008 8616 c.218T>G Substitution p.Met73Arg Substitution 1A Alexander disease Gorospe et al, 2002 8914 c.218T>G Substitution p.Met73Arg Substitution 1A Alexander disease Li et al, 2005 13266 c.218T>A Substitution p.Met73Lys Substitution 1A Alexander disease Caroli et al, 2007 12421 c.221T>C Substitution p.Met74Thr Substitution 1A Alexander disease Ohnari et al, 2007 8599 c.226C>T Substitution p.Leu76Phe Substitution 1A Alexander disease Rodriguez et al, 2001 8915 c.226C>T Substitution p.Leu76Phe Substitution 1A Alexander disease Li et al, 2005 8916 c.226C>G Substitution p.Leu76Val Substitution 1A Alexander disease Li et al, 2005 8600 c.229A>T Substitution p.Asn77Tyr Substitution 1A Alexander disease Rodriguez et al, 2001 8917 c.230A>G Substitution p.Asn77Ser Substitution 1A Alexander disease Li et al, 2005 13268 c.230A>G Substitution p.Asn77Ser Substitution 1A Alexander disease Caroli et al, 2007 8582 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Brenner et al, 2001 8591 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Brenner et al, 2001 8617 c.235C>G Substitution p.Arg79Gly Substitution 1A Alexander disease Gorospe et al, 2002 8618 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Gorospe et al, 2002 9247 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Probst et al, 2003 8634 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Shiroma et al, 2003 9222 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Ma et al, 2005 8918 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Li et al, 2005 11485 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Li et al, 2005 11486 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Li et al, 2005 13270 c.235C>T Substitution p.Arg79Cys Substitution 1A Alexander disease Caroli et al, 2007 8592 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Brenner et al, 2001 9454 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Brenner et al, 2001 8601 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Rodriguez et al, 2001 11408 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Rodriguez et al, 2001 11409 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Rodriguez et al, 2001 11410 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Rodriguez et al, 2001 8619 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Gorospe et al, 2002 8629 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Meins et al, 2002 8636 c.236G>T Substitution p.Arg79Leu Substitution 1A Alexander disease Shiroma et al, 2003 9230 c.236G>A Substitution p.Arg79His Substitution 1A Alexander disease Asahina et al, 2006 13272 c.236G>C Substitution p.Arg79Pro Substitution 1A Alexander disease Caroli et al, 2007 13439 c.[236G>A; =]+[=; 667G>C] Substitution p.[Arg79His; =]+[=; Glu223Gln] Substitution 1A, L12 Alexander disease Dotti et al, 2009 12441 c.247T>C Substitution p.Tyr83His Substitution 1A Alexander disease Ye et al, 2008 9214 c.248C>A Substitution p.Asp78Glu Substitution 1A Alexander disease Stumpf et al, 2003 9321 c.256_259delAAGGinsGAGT Indel p.Lys86_Val87delinsGluPhe Indel 1A Alexander disease van der Knaap et al, 2006 8615 c.260T>G Substitution p.Val87Gly Substitution 1A Alexander disease Okamoto et al, 2002 8605 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Rodriguez et al, 2001 11411 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Rodriguez et al, 2001 8607 c.262C>A Substitution p.Arg88Ser Substitution 1A Alexander disease Rodriguez et al, 2001 8623 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Gorospe et al, 2002 8624 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Gorospe et al, 2002 8633 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Guthrie et al, 2003 9296 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Nobuhara et al, 2004 8919 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Li et al, 2005 9075 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease van der Knaap et al, 2006 11527 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease van der Knaap et al, 2006 11528 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease van der Knaap et al, 2006 12443 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Ye et al, 2008 12444 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Ye et al, 2008 13274 c.262C>T Substitution p.Arg88Cys Substitution 1A Alexander disease Caroli et al, 2007 8955 c.269T>C Substitution p.Leu90Pro Substitution 1A Alexander disease Suzuki et al, 2004 8630 c.290T>C Substitution p.Leu97Pro Substitution 1A Alexander disease Meins et al, 2002 8920 c.290T>C Substitution p.Leu97Pro Substitution 1A Alexander disease Li et al, 2005 8939 c.343G>T Substitution p.Val115Phe Substitution 1B Alexander disease Li et al, 2005 8954 c.343G>A Substitution p.Val115Ile Substitution 1B Alexander disease van der Knaap et al, 2005 9206 c.380_385dupGCGGCT Duplication p.Arg126_Leu127dup Duplication 1B Alexander disease van der Knaap et al, 2006 13258 c.382G>A Substitution p.Asp128Asn Substitution 1B Alexander disease Pareyson et al, 2008 13301 c.469G>A Substitution p.Asp157Asn Substitution 1B Alexander disease Sechi et al, 2008 13247 c.613G>A Substitution p.Glu205Lys Substitution 1B Alexander disease Pareyson et al, 2008 13251 c.613G>A Substitution p.Glu205Lys Substitution 1B Alexander disease Pareyson et al, 2008 8921 c.619G>A Substitution p.Glu207Lys Substitution 1B Alexander disease Li et al, 2005 8922 c.619G>C Substitution p.Glu207Gln Substitution 1B Alexander disease Li et al, 2005 8947 c.619G>A Substitution p.Glu207Lys Substitution 1B Alexander disease van der Knaap et al, 2005 8951 c.619G>C Substitution p.Glu207Gln Substitution 1B Alexander disease van der Knaap et al, 2005 8923 c.628G>A Substitution p.Glu210Lys Substitution 1B Alexander disease Li et al, 2005 9077 c.628G>A Substitution p.Glu210Lys Substitution 1B Alexander disease van der Knaap et al, 2006 9936 c.667G>C Substitution p.Glu223Gln Substitution L12 Alexander disease Brockmann et al, 2003 8924 c.704T>C Substitution p.Leu235Pro Substitution 2A Alexander disease Li et al, 2005 11487 c.704T>C Substitution p.Leu235Pro Substitution 2A Alexander disease Li et al, 2005 11488 c.704T>C Substitution p.Leu235Pro Substitution 2A Alexander disease Li et al, 2005 8948 c.704T>C Substitution p.Leu235Pro Substitution 2A Alexander disease van der Knaap et al, 2005 11499 c.704T>C Substitution p.Leu235Pro Substitution 2A Alexander disease van der Knaap et al, 2005 8584 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Brenner et al, 2001 11398 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Brenner et al, 2001 11399 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Brenner et al, 2001 8608 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Rodriguez et al, 2001 11412 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Rodriguez et al, 2001 11413 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Rodriguez et al, 2001 11414 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Rodriguez et al, 2001 8613 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Shiroma et al, 2001 9056 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Shiihara et al, 2002 8620 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Gorospe et al, 2002 8628 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Meins et al, 2002 8635 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Shiroma et al, 2003 9221 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Wakabayashi et al, 2005 8925 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 11489 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 11490 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 11491 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 11492 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 11493 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease Li et al, 2005 8953 c.715C>T Substitution p.Arg239Cys Substitution 2A Alexander disease van der Knaap et al, 2005 8587 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Brenner et al, 2001 8612 c.716G>A Substitution p.Arg293His Substitution 2B Alexander disease Rodriguez et al, 2001 8631 c.716G>C Substitution p.Arg239Pro Substitution 2A Alexander disease Meins et al, 2002 8926 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Li et al, 2005 11494 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Li et al, 2005 11495 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Li et al, 2005 11496 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Li et al, 2005 11497 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Li et al, 2005 8927 c.716G>C Substitution p.Arg239Pro Substitution 2A Alexander disease Li et al, 2005 8946 c.716G>C Substitution p.Arg239Pro Substitution 2A Alexander disease van der Knaap et al, 2005 11718 c.716G>T Substitution p.Arg239Leu Substitution 2A Alexander disease Lee et al, 2006 11768 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Sakakibara et al, 2007 13276 c.716G>A Substitution p.Arg239His Substitution 2A Alexander disease Caroli et al, 2007 13278 c.716G>C Substitution p.Arg239Pro Substitution 2A Alexander disease Caroli et al, 2007 8621 c.724T>G Substitution p.Tyr242Asp Substitution 2A Alexander disease Gorospe et al, 2002 8614 c.731C>T Substitution p.Ala244Val Substitution 2A Alexander disease Aoki et al, 2001 8928 c.731C>T Substitution p.Ala244Val Substitution 2A Alexander disease Li et al, 2005 8950 c.731C>T Substitution p.Ala244Val Substitution 2A Alexander disease van der Knaap et al, 2005 8929 c.758C>G Substitution p.Ala253Gly Substitution L2 Alexander disease Li et al, 2005 8952 c.758C>G Substitution p.Ala253Gly Substitution L2 Alexander disease van der Knaap et al, 2005 13311 c.759C>T Substitution p.= Silent Not affected Alexander disease Balbi et al, 2008 12425 c.770A>G Substitution p.Tyr257Cys Substitution 2B Alexander disease Howard et al, 2007 8588 c.773G>C Substitution p.Arg258Pro Substitution 2B Alexander disease Brenner et al, 2001 12376 c.[799G>C]+[*28C>G] Substitution p.[Ala267Pro]+[=] Substitution 2B Alexander disease Hinttala et al, 2007 8632 c.827G>T Substitution p.Arg276Leu Substitution 2B Alexander disease Namekawa et al, 2002 8930 c.835A>G Substitution p.Lys279Glu Substitution 2B Alexander disease Li et al, 2005 13313 c.988C>G Substitution p.Arg330Gly Substitution 2B Alexander disease Balbi et al, 2008 13321 c.988C>G Substitution p.Arg330Gly Substitution 2B Alexander disease Bachetti et al, 2008 9295 c.992T>C Substitution p.Leu331Pro Substitution 2B Alexander disease Shiihara et al, 2004 13315 c.994G>A Substitution p.Glu332Lys Substitution 2B Alexander disease Balbi et al, 2008 13323 c.994G>A Substitution p.Glu332Lys Substitution 2B Alexander disease Bachetti et al, 2008 9073 c.1055T>C Substitution p.Leu352Pro Substitution 2B Alexander disease Bassuk et al, 2003 8931 c.1055T>C Substitution p.Leu352Pro Substitution 2B Alexander disease Li et al, 2005 13451 c.1070C>T Substitution p.Pro357Leu Substitution 2B Alexander disease Niinikoski et al, 2009 8932 c.1075C>G Substitution p.Leu359Val Substitution 2B Alexander disease Li et al, 2005 13280 c.1076T>C Substitution p.Leu359Pro Substitution 2B Alexander disease Caroli et al, 2007 13303 c.1076T>C Substitution p.Leu359Pro Substitution 2B Alexander disease Romano et al, 2007 12356 c.1079A>T Substitution p.Asp360Val Substitution 2B Alexander disease Ishigaki et al, 2006 8627 c.1086G>C Substitution p.Glu362Asp Substitution 2B Alexander disease Sawaishi et al, 2002 8933 c.1090G>C Substitution p.Ala364Pro Substitution 2B Alexander disease Li et al, 2005 12386 c.1091C>T Substitution p.Ala364Val Substitution 2B Alexander disease Hartmann et al, 2007 8934 c.1096T>C Substitution p.Tyr366His Substitution 2B Alexander disease Li et al, 2005 12385 c.1097A>G Substitution p.Tyr366Cys Substitution 2B Alexander disease Hartmann et al, 2007 9231 c.1112A>G Substitution p.Glu371Gly Substitution 2B Alexander disease Kawai et al, 2006 8622 c.1117G>A Substitution p.Glu373Lys Substitution 2B Alexander disease Gorospe et al, 2002 9333 c.1117G>A Substitution p.Glu373Lys Substitution 2B Alexander disease Gorospe et al, 2002 8935 c.1117G>A Substitution p.Glu373Lys Substitution 2B Alexander disease Li et al, 2005 11498 c.1117G>A Substitution p.Glu373Lys Substitution 2B Alexander disease Li et al, 2005 8936 c.1117G>C Substitution p.Glu373Gln Substitution 2B Alexander disease Li et al, 2005 12607 c.1117G>A Substitution p.Glu373Lys Substitution 2B Alexander disease Matej et al, 2008 8937 c.1121A>G Substitution p.Glu374Gly Substitution 2B Alexander disease Li et al, 2005 13307 c.1126C>T Substitution p.Arg376Trp Substitution 2B Alexander disease Hirayama et al, 2008 11717 c.1157A>T Substitution p.Asn386Ile Substitution Tail Alexander disease Cáceres-Marzal et al, 2006 12378 c.1178G>T Substitution p.Ser393Ile Substitution Tail Alexander disease Salmaggi et al, 2007 8589 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Brenner et al, 2001 11400 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Brenner et al, 2001 8625 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Gorospe et al, 2002 9215 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Kinoshita et al, 2003 9074 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Thyagarajan et al, 2004 8938 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Li et al, 2005 9076 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease van der Knaap et al, 2006 13283 c.1246C>T Substitution p.Arg416Trp Substitution Tail Alexander disease Caroli et al, 2007 12439 c.1247_1249delGGGinsGG Indel p.Asp417MetfsX15 Frame shift Tail Alexander disease Murakami et al, 2008 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 2010-02-01 12:43:19 * 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. ID DNA Allelic Variant DNA Allelic Variant Type Protein Allelic Variant Protein Allelic Variant Type Domain Population Studied Allele Frequency Reference 8593 c.-518T>A Substitution p.= Silent Not affected - - Brenner et al, 2001 8594 c.-264C>A Substitution p.= Silent Not affected - - Brenner et al, 2001 14134 c.141G>A Substitution p.= Silent - Hispanic - Khanlou et al, 2009 14136 c.1258-86C>T Substitution p.= Silent - Hispanic - Khanlou et al, 2009 14138 c.*32C>G Substitution p.= Silent - Hispanic - Khanlou et al, 2009 8626 c.96T>C Substitution p.= Silent Not affected - - Gorospe et al, 2002 8597 c.140C>T Substitution p.Pro47Leu Substitution Head - - Brenner et al, 2001 8940 c.140C>T Substitution p.Pro47Leu Substitution Head - - Li et al, 2005 8598 c.141G>A Substitution p.= Silent Not affected - - Brenner et al, 2001 8941 c.141G>A Substitution p.= Silent Not affected - - Li et al, 2005 8942 c.343G>A Substitution p.Val115Ile Substitution 1B - - Li et al, 2005 8943 c.469G>A Substitution p.Asp157Asn Substitution 1B - - Li et al, 2005 13249 c.469G>A Substitution p.Asp157Asn Substitution 1B - - Pareyson et al, 2008 13254 c.469G>A Substitution p.Asp157Asn Substitution 1B - - Pareyson et al, 2008 13260 c.469G>A Substitution p.Asp157Asn Substitution 1B - - Pareyson et al, 2008 13285 c.523-76G>C Substitution p.= Silent Not affected Italian 0.038 Caroli et al, 2007 9553 c.523-9C>G Substitution p.? Unknown Unknown - - Brenner et al, 2001 8894 c.619-96G>T Substitution p.= Silent Not affected Caucasian - Li et al, 2006 9552 c.619-12C>T Substitution p.? Unknown Unknown - - Brenner et al, 2001 8889 c.619-12C>T Substitution p.= Silent Not affected - - Li et al, 2005 13287 c.619-12C>T Substitution p.= Silent Not affected Italian 0.115 Caroli et al, 2007 8944 c.667G>C Substitution p.Glu223Gln Substitution L12 - - Li et al, 2005 8895 c.781-826G>A Substitution p.= Silent Not affected Caucasian - Li et al, 2006 8595 c.858G>A Substitution p.= Silent Not affected - - Brenner et al, 2001 8945 c.858G>A Substitution p.= Silent Not affected - - Li et al, 2005 11744 c.858G>A Substitution p.= Silent Not affected Caucasian - Isaacs et al, 1998 8596 c.883G>A Substitution p.Asp295Asn Substitution 2B - - Brenner et al, 2001 11745 c.883G>A Substitution p.Asp295Asn Substitution 2B Caucasian - Isaacs et al, 1998 13289 c.906+81A>G Substitution p.= Silent Not affected Italian 0.192 Caroli et al, 2007 8890 c.907-100A>C Substitution p.= Silent Not affected - - Li et al, 2005 13291 c.907-100A>C Substitution p.= Silent Not affected Italian 0.038 Caroli et al, 2007 8896 c.1128-151C>T Substitution p.= Silent Not affected Caucasian - Li et al, 2006 9554 c.1128-66C>G Substitution p.= Silent Not affected - - Brenner et al, 2001 8891 c.1128-66C>G Substitution p.= Silent Not affected - - Li et al, 2005 13293 c.1128-66C>G Substitution p.= Silent Not affected Italian 0.192 Caroli et al, 2007 8897 c.1171+471C>T Substitution p.= Silent Not affected Caucasian - Li et al, 2006 8898 c.1171+501C>A Substitution p.= Silent Not affected Caucasian - Li et al, 2006 8899 c.1172-306A>G Substitution p.= Silent Not affected Caucasian - Li et al, 2006 8892 c.1258-86C>T Substitution p.= Silent Not affected - - Li et al, 2005 9050 c.*28C>G Substitution p.= Silent Not affected - - Li et al, 2005 13296 c.*28C>G Substitution p.= Silent Not affected Italian 0.038 Caroli et al, 2007 9051 c.*33C>G Substitution p.= Silent Not affected - - Li et al, 2005 Back to top