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| Protein Name | glial fibrillary acidic protein, GFAP |
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| Gene Symbol | GFAP |
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| Intermediate Filament Type | III |
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| HGNC ID | 4235 |
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| OMIM ID | *137780 |
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| NCBI Gene ID | 2670 |
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 INTEGRATED SEQUENCE VIEW |
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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 |
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| Chromosome Strand | - |
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| Chromosome GI | 51511734 |
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| Chromosome RefSeq ID | NC_000017.9 |
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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
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| mRNA SEQUENCE |
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Reference sequence last updated on 2009-07-21 16:59:28 | RefSeq ID | NM_002055.2 |
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| GI | 24430142 |
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| Length | 3035 nucleotides |
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| Download | File | Text |
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| 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
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| MONOCLONAL ANTIBODIES |
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Information last updated on 2008-08-26 10:20:12 | Clone Name | Species | Reported Specificity | Epitope | Reference |
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| 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 |
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| RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT |
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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 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 |
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| Nucleotide | file | view | | Protein | file | view |
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| SEQUENCE VARIANTS |
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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 |
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| ALLELIC VARIANTS |
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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.
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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 |
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| 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 |
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