Human Intermediate Filament Database

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Human Intermediate Filament Database - NF-H

Intermediate Filament Details

Protein Name	NF-H; neurofilament protein, high molecular weight
Gene Symbol	NEFH
Intermediate Filament Type	IV
HGNC ID	7737
OMIM ID	*162230
NCBI Gene ID	4744

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:05:03
* 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 22q12.2
Chromosome Strand +
Chromosome GI 51511751
Chromosome RefSeq ID NC_000022.8
28200773 : GCCCCGTCCC GGCCTCGCGC ACCTGCTCAG GCCATGATGA GCTTCGGCGG : 28200822 -33 : GCCCCGTCCC GGCCTCGCGC ACCTGCTCAG GCCATGATGA GCTTCGGCGG : 17 1 : M M S F G G : 6 28200823 : CGCGGACGCG CTGCTGGGCG CCCCGTTCGC GCCGCTGCAT GGCGGCGGCA : 28200872 18 : CGCGGACGCG CTGCTGGGCG CCCCGTTCGC GCCGCTGCAT GGCGGCGGCA : 67 7 : A D A L L G A P F A P L H G G G : 22 28200873 : GCCTCCACTA CGCGCTAGCC CGAAAGGGTG GCGCAGGCGG GACGCGCTCC : 28200922 68 : GCCTCCACTA CGCGCTAGCC CGAAAGGGTG GCGCAGGCGG GACGCGCTCC : 117 23 : S L H Y A L A R K G G A G G T R S : 39 28200923 : GCCGCTGGCT CCTCCAGCGG CTTCCACTCG TGGACACGGA CGTCCGTGAG : 28200972 118 : GCCGCTGGCT CCTCCAGCGG CTTCCACTCG TGGACACGGA CGTCCGTGAG : 167 40 : A A G S S S G F H S W T R T S V S : 56 28200973 : CTCCGTGTCC GCCTCGCCCA GCCGCTTCCG TGGCGCAGGC GCCGCCTCAA : 28201022 168 : CTCCGTGTCC GCCTCGCCCA GCCGCTTCCG TGGCGCAGGC GCCGCCTCAA : 217 57 : S V S A S P S R F R G A G A A S : 72 28201023 : GCACCGACTC GCTGGACACG CTGAGCAACG GGCCGGAGGG CTGCATGGTG : 28201072 218 : GCACCGACTC GCTGGACACG CTGAGCAACG GGCCGGAGGG CTGCATGGTG : 267 73 : S T D S L D T L S N G P E G C M V : 89 VARIANTS : T : VARIANTS 28201073 : GCGGTGGCCA CCTCACGCAG TGAGAAGGAG CAGCTGCAGG CGCTGAACGA : 28201122 268 : GCGGTGGCCA CCTCACGCAG TGAGAAGGAG CAGCTGCAGG CGCTGAACGA : 317 90 : A V A T S R S E K E Q L Q A L N D : 106 VARIANTS : V : VARIANTS 28201123 : CCGCTTCGCC GGGTACATCG ACAAGGTGCG GCAGCTGGAG GCGCACAACC : 28201172 318 : CCGCTTCGCC GGGTACATCG ACAAGGTGCG GCAGCTGGAG GCGCACAACC : 367 107 : R F A G Y I D K V R Q L E A H N : 122 28201173 : GCAGCCTGGA GGGCGAGGCT GCGGCGCTGC GGCAGCAGCA GGCGGGCCGC : 28201222 368 : GCAGCCTGGA GGGCGAGGCT GCGGCGCTGC GGCAGCAGCA GGCGGGCCGC : 417 123 : R S L E G E A A A L R Q Q Q A G R : 139 28201223 : TCCGCTATGG GCGAGCTGTA CGAGCGCGAG GTCCGCGAGA TGCGCGGCGC : 28201272 418 : TCCGCTATGG GCGAGCTGTA CGAGCGCGAG GTCCGCGAGA TGCGCGGCGC : 467 140 : S A M G E L Y E R E V R E M R G A : 156 VARIANTS : T : VARIANTS 28201273 : GGTGCTGCGC CTGGGCGCGG CGCGCGGTCA GCTACGCCTG GAGCAGGAGC : 28201322 468 : GGTGCTGCGC CTGGGCGCGG CGCGCGGTCA GCTACGCCTG GAGCAGGAGC : 517 157 : V L R L G A A R G Q L R L E Q E : 172 28201323 : ACCTGCTCGA GGACATCGCG CACGTGCGCC AGCGCCTAGA CGACGAGGCC : 28201372 518 : ACCTGCTCGA GGACATCGCG CACGTGCGCC AGCGCCTAGA CGACGAGGCC : 567 173 : H L L E D I A H V R Q R L D D E A : 189 28201373 : CGGCAGCGAG AGGAGGCCGA GGCGGCGGCC CGCGCGCTGG CGCGCTTCGC : 28201422 568 : CGGCAGCGAG AGGAGGCCGA GGCGGCGGCC CGCGCGCTGG CGCGCTTCGC : 617 190 : R Q R E E A E A A A R A L A R F A : 206 28201423 : GCAGGAGGCC GAGGCGGCGC GCGTGGACCT GCAGAAGAAG GCGCAGGCGC : 28201472 618 : GCAGGAGGCC GAGGCGGCGC GCGTGGACCT GCAGAAGAAG GCGCAGGCGC : 667 207 : Q E A E A A R V D L Q K K A Q A : 222 28201473 : TGCAGGAGGA GTGCGGCTAC CTGCGGCGCC ACCACCAGGA AGAGGTGGGC : 28201522 668 : TGCAGGAGGA GTGCGGCTAC CTGCGGCGCC ACCACCAGGA AGAGGTGGGC : 717 223 : L Q E E C G Y L R R H H Q E E V G : 239 VARIANTS : A : VARIANTS 28201523 : GAGCTGCTCG GCCAGATCCA GGGCTCCGGC GCCGCGCAGG CGCAGATGCA : 28201572 718 : GAGCTGCTCG GCCAGATCCA GGGCTCCGGC GCCGCGCAGG CGCAGATGCA : 767 240 : E L L G Q I Q G S G A A Q A Q M Q : 256 VARIANTS : S : VARIANTS 28201573 : GGCCGAGACG CGCGACGCCC TGAAGTGCGA CGTGACGTCG GCGCTGCGCG : 28201622 768 : GGCCGAGACG CGCGACGCCC TGAAGTGCGA CGTGACGTCG GCGCTGCGCG : 817 257 : A E T R D A L K C D V T S A L R : 272 28201623 : AGATTCGCGC GCAGCTTGAA GGCCACGCGG TGCAGAGCAC GCTGCAGTCC : 28201672 818 : AGATTCGCGC GCAGCTTGAA GGCCACGCGG TGCAGAGCAC GCTGCAGTCC : 867 273 : E I R A Q L E G H A V Q S T L Q S : 289 28201673 : GAGGAGTGGT TCCGAGGTAC GCAGGCGCGC GGGTGGGGGG AGGGGCGCCC : 28201722 868 : GAGGAGTGGT TCCGAG : 883 290 : E E W F R : 294 28201723 : CTGCTGACCC CGCAGCGAAC TTTTGGGCTG CGTGACCCAA GGGGGCGCTG : 28201772 28201773 : CCGGACTGCG CGTGGAGTGG CGCGCTGCTC ACCTTCCCTC TGCAAAGTGC : 28201822 28201823 : ATGCCCCTAG TTAAATCGCA GTTTTACTCT GGGTCTCTTG TGGGACGCCC : 28201872 28201873 : CAACTCTGGG TTGTCCTTCG GTTCCCCCTT TCCAGGTTCT TTACGGCTGT : 28201922 28201923 : ACTTCAACTC TGGGCCCCCT GCTGCTCTCT ACCCCAAGCT TAGGCGACCC : 28201972 28201973 : CACTCTGAGA TCCCTCCCCC GTCAAGAAAA AAACAAGTTT CCTCTACAGG : 28202022 28202023 : AAAAAAGTGG TGCAGGATTC TGGTCTGCAA GCGCTGGAGA CTCTTAGCCC : 28202072 28202073 : TTCTAAGTAG CAAGGCTTCC CCGCCAATGC TGCCATGCCC TCTCCTACAC : 28202122 28202123 : CCCGCAAGAA ACTCTATTCC TCTCACCCCT ACCAGGCTCC TTCCCACTAC : 28202172 28202173 : CTGCTCAGTG CTTAACGTTC CTACCTTAAA TCTTCCACGT GGGGGTGGGT : 28202222 28202223 : CAGGACCTTT TCGCATCCTT TCTTCCTAGA GGGAACCATT ACTACAGTCA : 28202272 28202273 : GTTGTTGCCT GTGGCGGAGG TGGCTGGTGG GCCCTTTCAT GTTTTAATGT : 28202322 28202323 : CCCCTTTCTC CTTTAGGGAA GCTGGGAGCC TCCCAAGTCT GCCCCTCCCC : 28202372 28202373 : CAACTCCTTG CAGCCCTGAG TCAGCTAGAT TGCGCTGCCC TGAGGCTGTG : 28202422 28202423 : CCCAGCAGCT GCAGGGTGAC CTTGACCAAC ACTTGCCCTC TCTGGTTTTC : 28202472 28202473 : ATTTCTTTTT GAGTTGAAAG AGGAGGGTAG ATCAACTGGG CTGCTTAATC : 28202522 28202523 : CGGGGAGTTC CATGATGTCT CACGAAACTG TCTGTAAAAC TTTGCGTTGT : 28202572 28202573 : TTTTGAGAGA GAGGGCAGAG GCTTCAGTGA TTTTCCAAAA GCATCTGTGA : 28202622 28202623 : TCGACAATAG TTGAGAATCT CCAACCACCT GGATGGTTTC TAAGTCTTTG : 28202672 28202673 : CCAGCACTAG CAGGGAAAGC TGGGATTTTG ATGCATAGCT TTTTCTGTTC : 28202722 28202723 : CTTTTCCACT CCTCTGCAGA GCAGAACCAT CCCCTCCTCC ATCTCCGCAG : 28202772 28202773 : CAAGGCCCCT CCCTGCGCAA ACCTCTTTTG GGTTTGCCAG TCGTAGGGGC : 28202822 28202823 : AGACGTCCCA GGATTGTACT GGCCCACTCA GCTGGCTTCC TTCCTCCCCG : 28202872 28202873 : CCAAGACTTG TGCCCTGAGT GCCACTATCT GGGGATTCAG GATGTTCACT : 28202922 28202923 : TTTACGAGCT AAAGACCAGT CTCCAGACCT CCACTGCCTC TGGAAGGTTT : 28202972 28202973 : CCTGGGAACC ACGAGCGGGT TGCTGGCGGG GGCCGGGGTG TGGCTACCAA : 28203022 28203023 : TGCTCAGGGG CAATGCTCAG CTAGGTGGAG AAAGGGACAG GGGTTGGCAC : 28203072 28203073 : CCAGGCCACG GGCTCTGCAC TGACCTTGGA CTGTGCGCAG AAACCTGTAA : 28203122 28203123 : GGAAGGGACC ATGGCTACAA GGTGACCTGA TTGCTCACGG TACCCTCATG : 28203172 28203173 : CCTCCTAAAG GTCACAAGCT CATTAACTTG TTCAGCCACA AACCTGCAGC : 28203222 28203223 : CTCCAGCTCA GTGTTAAGCC CCATGGGCCA GGTATCACAT CTGAACCACC : 28203272 28203273 : AGCACTGCCA GGCCCTTGCT AGGGAGCTGG ACCAGGCATT AGGACCAGGG : 28203322 28203323 : TTTCCTCTGC CCTGCAGGGT TTTTGGATCC CACACTGGGG GAGACAGAGC : 28203372 28203373 : ATGATCTTTG GGGATTTGAG TCCCAGCTCT GCCACTCACT AGCTGGGTGG : 28203422 28203423 : CCTTGGGGAG TAGTCACTTG CCTTTATCTC ACAGGACAGA GTGAGTCAAG : 28203472 28203473 : CATACAGGAT GGTGTCTGGC ACACGCAGTA GGTCAATCCA CATGTGTCAC : 28203522 28203523 : CTTCAAAATC TGGGCATTAG GCCGGGCGTG GTGGCTCACA CCTGTAATTC : 28203572 28203573 : CAGCTCTTTG GGAGGCCGAG GTGGGCGAAT CATGAGGTCA GGAGTTCAAG : 28203622 28203623 : ACCGCCTGGC GAATGTGGCA AAACCCCATC TCTACTAAAA ATACAAAAAA : 28203672 28203673 : TTAGCTGGGC GTAGTGGCAG GTGCCTGTAA TCCCAGCTAC TCGGGAGGCT : 28203722 28203723 : GAGGCAGGAG AATCGCTTGA ACCCAGGAGG CGGAGCTTGC AGCGAGCTGA : 28203772 28203773 : GAGTGCACCA CTGCCCTCCA GCCTGGGCGA GAGCGAGAAT CCGTCTCAAA : 28203822 28203823 : AAAAAAAAAA AAGAAAAAGA ACAAAGAAAA AAATCTGGGC ATTAGAACCC : 28203872 28203873 : AGTCCAGGTG TGTCTAACCC TGTGCCCTGC TACCTTCTCC CCCAGTGAGG : 28203922 884 : TGAGG : 888 295 : V R : 296 28203923 : CTGGACCGAC TGTCGGAGGC AGCCAAGGTG AACACAGACG CTATGCGCTC : 28203972 889 : CTGGACCGAC TGTCGGAGGC AGCCAAGGTG AACACAGACG CTATGCGCTC : 938 297 : L D R L S E A A K V N T D A M R S : 313 28203973 : AGCGCAGGAG GAGATAACTG AGTACCGGCG TCAGCTGCAG GCCAGGACCA : 28204022 939 : AGCGCAGGAG GAGATAACTG AGTACCGGCG TCAGCTGCAG GCCAGGACCA : 988 314 : A Q E E I T E Y R R Q L Q A R T : 329 28204023 : CAGAGCTGGA GGCACTGAAA AGCACCAAGG ACTCACTGGA GAGGCAGCGC : 28204072 989 : CAGAGCTGGA GGCACTGAAA AGCACCAAGG ACTCACTGGA GAGGCAGCGC : 1038 330 : T E L E A L K S T K D S L E R Q R : 346 VARIANTS : A : VARIANTS 28204073 : TCTGAGCTGG AGGACCGTCA TCAGGCCGAC ATTGCCTCCT ACCAGGTGGG : 28204122 1039 : TCTGAGCTGG AGGACCGTCA TCAGGCCGAC ATTGCCTCCT ACCAG : 1083 347 : S E L E D R H Q A D I A S Y Q : 361 VARIANTS : S : VARIANTS 28204123 : CAGGGGCAAG GCAGACAGCC AGACTGCCTT ACCTGATTGG GTAGCCCTGG : 28204172 28204173 : ACAAGTTACT GTCCCTCACT GAGTGGGGTT GTAGTGGTTA AGATTGTGGC : 28204222 28204223 : CCTTGGAGTC AGACATACCA GCACTTTCCA GCTGTGTGAC CCTAGGAAAG : 28204272 28204273 : TTATCTAATT CTCTGAATCT GAGTTCCTTT CCAGCCATGA AAAAAAAAAA : 28204322 28204323 : AAAAAAAAAG CCTGCTTTGC AGAGCTGGAA AGATTAAAGA GATAGACTTT : 28204372 28204373 : TATTTATTTA TTTATTTATT TATTTATTTA TTTATTTTGA GATGGAGTCT : 28204422 28204423 : CACTCTGTTG CCCAGGCTGG AGTGCAGTGG CATGATCTCA GCTCACTGCA : 28204472 28204473 : ACCTCTGCCT CCTGGGCTCA AGAGATTCTC GTGCCTCAGC CTCCCGAGTA : 28204522 28204523 : GCGGGGACTA CAGGTGCATG CCACCACACC TGGCTAACTT TTGTATTTTT : 28204572 28204573 : AGTATTGACA GGGTTTCACC ATGTTGGCCA GGCTGGTCTC AAACTCCTGG : 28204622 28204623 : GCTCAGGCAA TCCTCCCACT TCAGCCTCCC AAAGTGCTGG GATTACAGGT : 28204672 28204673 : GTGAGGCACC GTGCCTGGCC TAAAGAGATA TACTTTAAAT GAGATTAGTG : 28204722 28204723 : TGAACTTGTG AATGAGCTCG GCAAGGTCTT CAACATTCGA ATCTTTCTAG : 28204772 28204773 : ATTTGAATCC CAGCTCTGCC ACTCACTAGG TTGGTCTTGG TCGCAGTGGA : 28204822 28204823 : CATTCTGTAA ACAGCAACCA GTGTCTTGGG TGGCCAGGGG AAGACCTTAG : 28204872 28204873 : CAGATTCCTT CTTTTAAAGA TAACTGGCGG CTGGGCCTAG TGGCTCATGC : 28204922 28204923 : CTGTAATCCC AGCACTTTAG GAGGCCAAGG CGGGTGGATC ACTTGAGGTC : 28204972 28204973 : AGGAGTTTGA GACCAGCCTG GCCAACATGG TGAAACCCTG TCTCTACTAA : 28205022 28205023 : AAAGATACAA AAATTAACTG GGCATGGTGG TGCGTGCCTG TAATCCCAGC : 28205072 28205073 : TACTTGGGAG GCTGAGACAG GAGAATCGCT TCAACTGAAC CTGGGAGATG : 28205122 28205123 : GGGGTTACAG TGAGCCGAGA TCGTGCCACT GCACCCAGCC TGGGCGACAG : 28205172 28205173 : AGCGACAGAG CGAGACTCTG TCTCAAGAAA ATTTAAAAAA ATTAAAAAAA : 28205222 28205223 : TTAGCTGGGT ATGGTTGTGT GTGCCTACAG TCCTAGCTAC TCAGAAGGCT : 28205272 28205273 : GAGGCAGTCA TCAATGCCTA CCAAACCCTG ACTGTGTGGT GGACACTGTG : 28205322 28205323 : GCACACTGGA GAAAGACAGG AGCAAAAGCA GGCAAGGCCC TGCTCCCACT : 28205372 28205373 : GGGTTTTTTT TTTTTTCTTT TTTGAGACAC AGTCTCACGC TGTTGCCCAA : 28205422 28205423 : GCCAGAATGT GACAGCGAGA TCATAGCTCA CTAAAGTCTT GTACTTCCGG : 28205472 28205473 : GCTCAAGTAA TCCTCCTCCC TCAGCTTCCT GAGTAGCTGG GACTATAGGT : 28205522 28205523 : GCACATCACC ATGCCCAGCT AATTATTTAA TTGTTTTGTA GAAATGAGGT : 28205572 28205573 : CTCACTGTGT TGCCCAGGCT GGTCTCAAAC TCCTGGGCTG AAGTGATCCT : 28205622 28205623 : CCTTCCTCAG CCTTCCAAAA TGCTGGGATT ACAGGCATGA ACCACCAGAG : 28205672 28205673 : TCTCGCTATG TCTCCCAGGC TGGAGTACAG TGGTATGATC TTGGCTCACT : 28205722 28205723 : GTAACCTCCG ACTCCTGGGT TCAAGCAATT CTCCTGTCTC AGCCTCCCAA : 28205772 28205773 : GTAGCTGGGA TTACAGGTAT GTGCCACCAC ATCCCGCTAA TTTTTGTATT : 28205822 28205823 : TTTAGTAGAG ACAGGGTTTT ACCATGTTGG CCAGGCTAGT CTCAAACTCC : 28205872 28205873 : TGACCTCAAG TGATCCACCC TCCTCAGCTT CCCAAAGTGT TGGGAATACA : 28205922 28205923 : GGCTTGAGCC ACCACTCCCG GCCTCACTGA GCACTTTCTA AGCTCAAGAT : 28205972 28205973 : CTCTAAATGT TATCCCATTA TCCTGCCAGC CAAACCAGCA GGAACAACTG : 28206022 28206023 : TTGACATCTG ATGAATTTCA TTTCAGACCT TCTCCAGTCT GAGGTCACTA : 28206072 28206073 : TACAGCAGGA TTTTTGCTCC AGATTGTTCC ACGTCCACTA ATGAGGACCC : 28206122 28206123 : TACAGCTCTG GCAGGGTTGG GGTTGGCCCC AGTGAGCCTG GCTGGATGGG : 28206172 28206173 : CCTGCTCTGG GGTCGCACAG CCCGCCGCAG CTTCTCTGGT ACTGAGGGCC : 28206222 28206223 : AGACACTGGC TGGCATGTGA TGTGTGTCAC CTCTCCTTCC CAGGAAGCCA : 28206272 1084 : GAAGCCA : 1090 362 : E A : 363 VARIANTS : A : VARIANTS 28206273 : TTCAGCAGCT GGACGCTGAG CTGAGGAACA CCAAGTGGGA GATGGCCGCC : 28206322 1091 : TTCAGCAGCT GGACGCTGAG CTGAGGAACA CCAAGTGGGA GATGGCCGCC : 1140 364 : I Q Q L D A E L R N T K W E M A A : 380 VARIANTS : T : VARIANTS 28206323 : CAGCTGCGAG AATACCAGGA CCTGCTCAAT GTCAAGATGG CTCTGGATAT : 28206372 1141 : CAGCTGCGAG AATACCAGGA CCTGCTCAAT GTCAAGATGG CTCTGGATAT : 1190 381 : Q L R E Y Q D L L N V K M A L D I : 397 VARIANTS : C : VARIANTS 28206373 : AGAGATAGCC GCTTACAGGT GAGACGCACA GGGGCTGTCA CATGGTGAAG : 28206422 1191 : AGAGATAGCC GCTTACAG : 1208 398 : E I A A Y R : 403 28206423 : AAAGCTTGTG TTCCTGCGAG ACGCTAAGCC TTGGGTTTCA AGACCCCGTT : 28206472 28206473 : TAGGCAGCCT ACCTGTCTTA GGGACAAAAT TCTTTTTAAA TTGCGGCAAA : 28206522 28206523 : ATAGACAAAA CATACAATTT ACCATTGAAC CAATTTCTTT TATTTTTTAT : 28206572 28206573 : TTATTTTTTG AGACAGACTT ACTGTGTTGC CCAGGTTGAA GTATGGTGGT : 28206622 28206623 : GCGATCTCTG CCCACTGCAG CCTCTCCCTC CTGGGTTCAA GCGATTCCCA : 28206672 28206673 : TGCCTCAGCC TCCTGAGTAA CTGGGATTAC ACGTGCCCGC CACCACGCCT : 28206722 28206723 : GGCTAATTTT TATTTTTTTT TTTTTAGTAG AAACAGGGTT TCACCATGTT : 28206772 28206773 : GGCCAGGCTG GTCTCAAACT CCTGAACTCA AGCCCTCTGC CCACCTCAGC : 28206822 28206823 : CTCCCAAAGT CCTGGGATTA CAGGCGAGAG CCACCATGAC CAGCCCCATT : 28206872 28206873 : CAACAATGTT AAGTAGGCAG TTCAGTGATA TTAAGTACTT TCACATTACT : 28206922 28206923 : GTGCAGCCAT AACCACTGTC TGTCTCCAGA ACTGTTTTCA TCATCGCAAA : 28206972 28206973 : CTGAAACTCC ATACCCAAGA AACCGTCATT ATCATTCTCT CCTTCCTTCA : 28207022 28207023 : GCCCCTGGCA GCCACTCTTT TACTCTGAGA GACATGAGTC TTTTTTTTTT : 28207072 28207073 : TTTTTTTTTT TGAGATGGAA TCTCACTCTG TTGCCCAGGC TGGAGTGCAG : 28207122 28207123 : CAGCATTATC TCGGCTCACT GCAACCTCTG TGTCCTGAGT TCAAGTGATT : 28207172 28207173 : CTCCTGCCTC AGCCTCCCGA GTAGCTGGGA TTACAGGCAC ATGCCACCAC : 28207222 28207223 : ACCCAGCTAT TTTTTGTATT TTTAGTAGAG ACTGGGTCTC GCTATGTTGG : 28207272 28207273 : CCAGGCTGGT CTCGAACTCC TGACCTCAGG TGATCCGCCT ACCTCGGCCT : 28207322 28207323 : CCCAAAGTGC TGGGATTACA GGCGTGAGCC ACTGTGCCCA GCCAATGAGT : 28207372 28207373 : CTTGAGAGTG ACTTACTTTC ATTCTGAAAT GATTTAGACG GTGGAAGTTC : 28207422 28207423 : CTTATCCCCT CCCCAGATCC AGCCAGCCAG AGGCCTGCTT TGAAGGGAAA : 28207472 28207473 : AGAGGTGCTT GAGTCAGGGA CCTTTCAAAC TCTGTCCTTT AGAGTTTCTT : 28207522 28207523 : AGCTCTGCAA GCATTCATTT CTTGGGGATA TAAAGTGGAG ATGATAATAA : 28207572 28207573 : GGGCAACCAT GTCATAGGGT TGTCAGGAAG ATGAGCTAAT CCCATTCCCA : 28207622 28207623 : AGCTAATCCA GGAAGCACAG GTACCACTGG GCTGCTACAG AGGGAACCCT : 28207672 28207673 : TAGTCAGTGG CAGCCTTGAG AAATCCAGTC TGAGGAATAA GACCGGGGGG : 28207722 28207723 : AGCAGGGCTA GGGAGCAGGA CTGATTCCCT GAGGACTTGT CCCAGTTCTG : 28207772 28207773 : ACTGGTGACC TGTGGCTTCC TACCTCTTGG CTCTCGTCTG TAATCTTGCT : 28207822 28207823 : ACTCAAAGCA TGGCACATGA ACCAGCAGAA TTGGCATCAT TCAAGAGCTT : 28207872 28207873 : ATCAGAAAGA TAGTCTCTTG GTTGGGTGTA GTGACTCATG CCTGTAATCC : 28207922 28207923 : CAGCACTTTG GGAGACCAAG GCAGACAGAT TGTTTCAGTT CAGAGACCAA : 28207972 28207973 : GCTGGGCAGC ATGGCAAAAC CCCATCTCTA CAAAAAATAC AAAAAAAAAA : 28208022 28208023 : AAAATAGCTG GGCATGGTGG CACATGCCTT TAGTCTCAGC TACTCAGGAG : 28208072 28208073 : GCTGACGTGG GAGGATCACC TGAGCCTGGG AGTTGGAGGC TTCAGTGAGC : 28208122 28208123 : TATGATCGTG CCACTGCACT CCAGCCTGTC ATCACAGAGT GAGACACTGT : 28208172 28208173 : CTCAAAAATA ACAACAACAC AACAACAACA AAAGACAGAC GCTCAGCCCC : 28208222 28208223 : TCCCCAGACC TGCTGAATCA GAATCTGCAT TTTGATAAGA TCCCCGGTCA : 28208272 28208273 : TCTGTGTGCT GCTAAATTTG GGAAGTACTA GTCTGAGGGG TAACCCCCAC : 28208322 28208323 : ACTTACTCTG AGACAAGCAT TCTGCCAAGT CTTTTCCATT CATTGTCTCA : 28208372 28208373 : CTGAAACAAC CCTCTGACGT AGGGACTCTA ATGACCCTCT TTTTCCAGTG : 28208422 28208423 : AGGAAATTGA GGCTCAAAGA GTTGGTGTGT CTTGGCCAAG GTCACCCATC : 28208472 28208473 : TAGTGAGGAG CAAAGCCAAG AGGAGAAACT GCGGCCTCTA CCCTATTCCT : 28208522 28208523 : GAAACTCAAA AGATGGTAAT ACAGGGTGAT GAGAGACACT CGCGATTCAA : 28208572 28208573 : ATGGGAGCGT TCTAAGACCT CTTAAACCCA AATTTATAAA AGTAGAATTG : 28208622 28208623 : TGGTCGGGTG CGGTGGCTCA CACCTGTAAT CCCAGCACTT TGGGAGGCCT : 28208672 28208673 : AGGCGGGTGG ATCGGCTGAG GTCAGGAGTT CGAGACCAGC CTGACCAATA : 28208722 28208723 : TGGTGAAACC CCCGTCTCTA CTAAAAATAC AAAAATTAAC TGGACGTGGT : 28208772 28208773 : GGCGTGCGCC TGTACTCCCA GCTACTCAGT AGGCTGAGAC AGGAGAATTG : 28208822 28208823 : CTTGAAGCTG GGGGAATTGC TTGAATCTGG GAGGCAGAGG TTGCAGTGAA : 28208872 28208873 : CTGAGATTGT ACCACTGGAC TCCAGCCTAG GTGACAGAGC AAGACTCCGT : 28208922 28208923 : CTCAAAAAAA GGAAAAAAAA AAGTGGAATT GTTTGCTCAG GCTCCCAGGG : 28208972 28208973 : TTCTCTTGAA TAATATTTTA GTTTGAGGGA CAATAAATTT AACTTTTGTT : 28209022 28209023 : AAATTTATTT AGGAGCTTTC TCTTGAGGGC CATTTTTTAT GGGGCAAAAG : 28209072 28209073 : TTGTTTTATT TCAAAAGTTT CAGGCTTAGC TGTGTTGAAG AAGACCAGCT : 28209122 28209123 : GTTCCAGCCT GGGCAACACA GTGAGACCCT CTCAAAAACA ACAACATCAA : 28209172 28209173 : CAAAAAAAGA CCAGTCCCAC CGGGGTACAC ATTCTGGGTG GTCACTGGAA : 28209222 28209223 : TGATTTGCCA AGTGACTTTC TCTAGTCTCA TAATGCCCAC CATTCACATT : 28209272 28209273 : CCTGTTCCAC CAAAACCCAT ATCATTCGAT GTCAGTGACC TTCAGGATAG : 28209322 28209323 : TCTAGGAAGA ACCCAAATAG TGAATTTGCC CTGAGTTTAT ACTAATGTGT : 28209372 28209373 : TCCGTGATCC ATCCTGCAGA AAACTCCTGG AAGGTGAAGA GTGTCGGATT : 28209422 1209 : A AAACTCCTGG AAGGTGAAGA GTGTCGGATT : 1239 404 : K L L E G E E C R I : 413 28209423 : GGCTTTGGCC CAATTCCTTT CTCGCTTCCA GAAGGACTCC CCAAAATTCC : 28209472 1240 : GGCTTTGGCC CAATTCCTTT CTCGCTTCCA GAAGGACTCC CCAAAATTCC : 1289 414 : G F G P I P F S L P E G L P K I P : 430 28209473 : CTCTGTGTCC ACTCACATAA AGGTGAAAAG CGAAGAGAAG ATCAAAGTGG : 28209522 1290 : CTCTGTGTCC ACTCACATAA AGGTGAAAAG CGAAGAGAAG ATCAAAGTGG : 1339 431 : S V S T H I K V K S E E K I K V : 446 VARIANTS : A A : VARIANTS 28209523 : TGGAGAAGTC TGAGAAAGAA ACTGTGATTG TGGAGGAACA GACAGAGGAG : 28209572 1340 : TGGAGAAGTC TGAGAAAGAA ACTGTGATTG TGGAGGAACA GACAGAGGAG : 1389 447 : V E K S E K E T V I V E E Q T E E : 463 VARIANTS : K K : VARIANTS 28209573 : ACCCAAGTGA CTGAAGAAGT GACTGAAGAA GAGGAGAAAG AGGCCAAAGA : 28209622 1390 : ACCCAAGTGA CTGAAGAAGT GACTGAAGAA GAGGAGAAAG AGGCCAAAGA : 1439 464 : T Q V T E E V T E E E E K E A K E : 480 28209623 : GGAGGAGGGC AAGGAGGAAG AAGGGGGTGA AGAAGAGGAG GCAGAAGGGG : 28209672 1440 : GGAGGAGGGC AAGGAGGAAG AAGGGGGTGA AGAAGAGGAG GCAGAAGGGG : 1489 481 : E E G K E E E G G E E E E A E G : 496 28209673 : GAGAAGAAGA AACAAAGTCT CCCCCAGCAG AAGAGGCTGC ATCCCCAGAG : 28209722 1490 : GAGAAGAAGA AACAAAGTCT CCCCCAGCAG AAGAGGCTGC ATCCCCAGAG : 1539 497 : G E E E T K S P P A E E A A S P E : 513 VARIANTS : C dddddddd : VARIANTS 28209723 : AAGGAAGCCA AGTCACCAGT AAAGGAAGAG GCAAAGTCAC CGGCTGAGGC : 28209772 1540 : AAGGAAGCCA AGTCACCAGT AAAGGAAGAG GCAAAGTCAC CGGCTGAGGC : 1589 514 : K E A K S P V K E E A K S P A E A : 530 VARIANTS : ddddddd : VARIANTS VARIANTS : G : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS 28209773 : CAAGTCCCCA GAGAAGGAGG AAGCAAAATC CCCAGCCGAA GTCAAGTCCC : 28209822 1590 : CAAGTCCCCA GAGAAGGAGG AAGCAAAATC CCCAGCCGAA GTCAAGTCCC : 1639 531 : K S P E K E E A K S P A E V K S : 546 VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddddddddd : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd dddd : VARIANTS 28209823 : CTGAGAAGGC CAAGTCTCCA GCAAAGGAAG AGGCAAAGTC ACCGCCTGAG : 28209872 1640 : CTGAGAAGGC CAAGTCTCCA GCAAAGGAAG AGGCAAAGTC ACCGCCTGAG : 1689 547 : P E K A K S P A K E E A K S P P E : 563 VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd ddd : VARIANTS 28209873 : GCCAAGTCCC CAGAGAAGGA GGAAGCAAAA TCTCCAGCTG AGGTCAAGTC : 28209922 1690 : GCCAAGTCCC CAGAGAAGGA GGAAGCAAAA TCTCCAGCTG AGGTCAAGTC : 1739 564 : A K S P E K E E A K S P A E V K S : 580 28209923 : CCCCGAGAAG GCCAAGTCCC CAGCAAAGGA AGAGGCAAAG TCACCGGCTG : 28209972 1740 : CCCCGAGAAG GCCAAGTCCC CAGCAAAGGA AGAGGCAAAG TCACCGGCTG : 1789 581 : P E K A K S P A K E E A K S P A : 596 VARIANTS : C : VARIANTS 28209973 : AGGCCAAGTC TCCAGAGAAG GCCAAGTCCC CAGTGAAGGA AGAAGCAAAG : 28210022 1790 : AGGCCAAGTC TCCAGAGAAG GCCAAGTCCC CAGTGAAGGA AGAAGCAAAG : 1839 597 : E A K S P E K A K S P V K E E A K : 613 VARIANTS : T C : VARIANTS 28210023 : TCACCGGCTG AGGCCAAGTC CCCAGTGAAG GAAGAAGCAA AATCTCCAGC : 28210072 1840 : TCACCGGCTG AGGCCAAGTC CCCAGTGAAG GAAGAAGCAA AATCTCCAGC : 1889 614 : S P A E A K S P V K E E A K S P A : 630 VARIANTS : L : VARIANTS 28210073 : TGAGGTCAAG TCCCCGGAAA AGGCCAAGTC TCCAACGAAG GAGGAAGCAA : 28210122 1890 : TGAGGTCAAG TCCCCGGAAA AGGCCAAGTC TCCAACGAAG GAGGAAGCAA : 1939 631 : E V K S P E K A K S P T K E E A : 646 VARIANTS : d : VARIANTS VARIANTS : ddddd dddddddddd ddddddddd d : VARIANTS 28210123 : AGTCCCCTGA GAAGGCCAAG TCCCCAGAGA AGGAAGAGGC CAAGTCCCCT : 28210172 1940 : AGTCCCCTGA GAAGGCCAAG TCCCCAGAGA AGGAAGAGGC CAAGTCCCCT : 1989 647 : K S P E K A K S P E K E E A K S P : 663 VARIANTS : ddd dddddddddd ddddddddd : VARIANTS VARIANTS : dddddddddd ddddddd : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd d : VARIANTS 28210173 : GAGAAGGCCA AGTCCCCAGT GAAGGCAGAA GCAAAGTCCC CTGAGAAGGC : 28210222 1990 : GAGAAGGCCA AGTCCCCAGT GAAGGCAGAA GCAAAGTCCC CTGAGAAGGC : 2039 664 : E K A K S P V K A E A K S P E K A : 680 VARIANTS : ddddddddd dddddddddd dddddddddd dddddddddd d : VARIANTS VARIANTS : ddddddddd ddddddd : VARIANTS 28210223 : CAAGTCCCCA GTGAAGGCAG AAGCAAAGTC CCCTGAGAAG GCCAAGTCCC : 28210272 2040 : CAAGTCCCCA GTGAAGGCAG AAGCAAAGTC CCCTGAGAAG GCCAAGTCCC : 2089 681 : K S P V K A E A K S P E K A K S : 696 VARIANTS : ii : VARIANTS 28210273 : CAGTGAAGGA AGAAGCAAAG TCCCCTGAGA AGGCCAAGTC CCCAGTGAAG : 28210322 2090 : CAGTGAAGGA AGAAGCAAAG TCCCCTGAGA AGGCCAAGTC CCCAGTGAAG : 2139 697 : P V K E E A K S P E K A K S P V K : 713 VARIANTS : iiii : VARIANTS 28210323 : GAAGAAGCAA AGTCCCCTGA GAAGGCCAAG TCCCCAGTGA AGGAAGAAGC : 28210372 2140 : GAAGAAGCAA AGTCCCCTGA GAAGGCCAAG TCCCCAGTGA AGGAAGAAGC : 2189 714 : E E A K S P E K A K S P V K E E A : 730 VARIANTS : dddddddddd : VARIANTS VARIANTS : T T : VARIANTS 28210373 : AAAGACCCCC GAGAAGGCCA AGTCCCCAGT GAAGGAAGAA GCTAAGTCCC : 28210422 2190 : AAAGACCCCC GAGAAGGCCA AGTCCCCAGT GAAGGAAGAA GCCAAGTCCC : 2239 731 : K T P E K A K S P V K E E A K S : 746 VARIANTS : M : VARIANTS VARIANTS : ddddddddd : VARIANTS VARIANTS : dddddddd : VARIANTS 28210423 : CAGAGAAGGC CAAGTCCCCA GAGAAGGCCA AGACTCTTGA TGTGAAGTCT : 28210472 2240 : CAGAGAAGGC CAAGTCCCCA GAGAAGGCCA AGACTCTTGA TGTGAAGTCT : 2289 747 : P E K A K S P E K A K T L D V K S : 763 VARIANTS : ddddddd : VARIANTS 28210473 : CCAGAAGCCA AGACTCCAGC GAAGGAGGAA GCAAGGTCCC CTGCAGACAA : 28210522 2290 : CCAGAAGCCA AGACTCCAGC GAAGGAGGAA GCAAGGTCCC CTGCAGACAA : 2339 764 : P E A K T P A K E E A R S P A D K : 780 VARIANTS : dd d : VARIANTS 28210523 : ATTCCCTGAA AAGGCCAAAA GCCCTGTCAA GGAGGAGGTC AAGTCCCCAG : 28210572 2340 : ATTCCCTGAA AAGGCCAAAA GCCCTGTCAA GGAGGAGGTC AAGTCCCCAG : 2389 781 : F P E K A K S P V K E E V K S P : 796 VARIANTS : d : VARIANTS VARIANTS : C : VARIANTS 28210573 : AGAAGGCGAA ATCTCCCCTG AAGGAGGATG CCAAGGCCCC TGAGAAGGAG : 28210622 2390 : AGAAGGCGAA ATCTCCCCTG AAGGAGGATG CCAAGGCCCC TGAGAAGGAG : 2439 797 : E K A K S P L K E D A K A P E K E : 813 VARIANTS : A : VARIANTS 28210623 : ATCCCAAAAA AGGAAGAGGT GAAGTCCCCA GTGAAGGAGG AGGAGAAGCC : 28210672 2440 : ATCCCAAAAA AGGAAGAGGT GAAGTCCCCA GTGAAGGAGG AGGAGAAGCC : 2489 814 : I P K K E E V K S P V K E E E K P : 830 28210673 : CCAGGAGGTG AAAGTCAAAG AGCCCCCAAA GAAGGCAGAG GAAGAGAAAG : 28210722 2490 : CCAGGAGGTG AAAGTCAAAG AGCCCCCAAA GAAGGCAGAG GAAGAGAAAG : 2539 831 : Q E V K V K E P P K K A E E E K : 846 28210723 : CCCCTGCCAC ACCAAAAACA GAGGAGAAGA AGGACAGCAA GAAAGAGGAG : 28210772 2540 : CCCCTGCCAC ACCAAAAACA GAGGAGAAGA AGGACAGCAA GAAAGAGGAG : 2589 847 : A P A T P K T E E K K D S K K E E : 863 28210773 : GCACCCAAGA AGGAGGCTCC AAAGCCCAAG GTGGAGGAGA AGAAGGAACC : 28210822 2590 : GCACCCAAGA AGGAGGCTCC AAAGCCCAAG GTGGAGGAGA AGAAGGAACC : 2639 864 : A P K K E A P K P K V E E K K E P : 880 28210823 : TGCTGTCGAA AAGCCCAAAG AATCCAAAGT TGAAGCCAAG AAGGAAGAGG : 28210872 2640 : TGCTGTCGAA AAGCCCAAAG AATCCAAAGT TGAAGCCAAG AAGGAAGAGG : 2689 881 : A V E K P K E S K V E A K K E E : 896 28210873 : CTGAAGATAA GAAAAAAGTC CCCACCCCAG AGAAGGAGGC TCCTGCCAAG : 28210922 2690 : CTGAAGATAA GAAAAAAGTC CCCACCCCAG AGAAGGAGGC TCCTGCCAAG : 2739 897 : A E D K K K V P T P E K E A P A K : 913 VARIANTS : G : VARIANTS 28210923 : GTGGAGGTGA AGGAAGACGC TAAACCCAAA GAAAAGACAG AGGTAGCCAA : 28210972 2740 : GTGGAGGTGA AGGAAGACGC TAAACCCAAA GAAAAGACAG AGGTAGCCAA : 2789 914 : V E V K E D A K P K E K T E V A K : 930 28210973 : GAAGGAACCA GATGATGCCA AGGCCAAGGA ACCCAGCAAA CCAGCAGAGA : 28211022 2790 : GAAGGAACCA GATGATGCCA AGGCCAAGGA ACCCAGCAAA CCAGCAGAGA : 2839 931 : K E P D D A K A K E P S K P A E : 946 28211023 : AGAAGGAGGC AGCACCGGAG AAAAAAGACA CCAAGGAGGA GAAGGCCAAG : 28211072 2840 : AGAAGGAGGC AGCACCGGAG AAAAAAGACA CCAAGGAGGA GAAGGCCAAG : 2889 947 : K K E A A P E K K D T K E E K A K : 963 28211073 : AAGCCTGAGG AGAAACCCAA GACAGAGGCC AAAGCCAAGG AAGATGACAA : 28211122 2890 : AAGCCTGAGG AGAAACCCAA GACAGAGGCC AAAGCCAAGG AAGATGACAA : 2939 964 : K P E E K P K T E A K A K E D D K : 980 28211123 : GACCCTCTCA AAAGAGCCTA GCAAGCCTAA GGCAGAAAAG GCTGAAAAAT : 28211172 2940 : GACCCTCTCA AAAGAGCCTA GCAAGCCTAA GGCAGAAAAG GCTGAAAAAT : 2989 981 : T L S K E P S K P K A E K A E K : 996 28211173 : CCTCCAGCAC AGACCAAAAA GACAGCAAGC CTCCAGAGAA GGCCACAGAA : 28211222 2990 : CCTCCAGCAC AGACCAAAAA GACAGCAAGC CTCCAGAGAA GGCCACAGAA : 3039 997 : S S S T D Q K D S K P P E K A T E : 1013 28211223 : GACAAGGCCG CCAAGGGGAA GTAAGGCAGG GAGAAAGGAA CATCCGGAAC : 28211272 3040 : GACAAGGCCG CCAAGGGGAA GTAAGGCAGG GAGAAAGGAA CATCCGGAAC : *26 1014 : D K A A K G K : 1020 28211273 : AGCCAAAGAA ACTCAGAAGA GTCCCGGAGC TCAAGGATCA GAGTAACACA : 28211322 *27 : AGCCAAAGAA ACTCAGAAGA GTCCCGGAGC TCAAGGATCA GAGTAACACA : *76 28211323 : ATTTTCACTT TTTCTGTCTT TATGTAAGAA GAAACTGCTT AGATGACGGG : 28211372 *77 : ATTTTCACTT TTTCTGTCTT TATGTAAGAA GAAACTGCTT AGATGACGGG : *126 28211373 : GCCTCCTTCT TCAAACAGGA ATTTCTGTTA GCAATATGTT AGCAAGAGAG : 28211422 *127 : GCCTCCTTCT TCAAACAGGA ATTTCTGTTA GCAATATGTT AGCAAGAGAG : *176 28211423 : GGCACTCCCA GGCCCCTGCC CCCAGGCCCT CCCCAGGCGA TGGACAATTA : 28211472 *177 : GGCACTCCCA GGCCCCTGCC CCCAGGCCCT CCCCAGGCGA TGGACAATTA : *226 28211473 : TGATAGCTTA TGTAGCTGAA TGTGATACAT GCCGAATGCC ACACGTAAAC : 28211522 *227 : TGATAGCTTA TGTAGCTGAA TGTGATACAT GCCGAATGCC ACACGTAAAC : *276 28211523 : ACTTGACTAT AAAAACTGCC CCCCTCCTTT CCAAATAAGT GCATTTATTG : 28211572 *277 : ACTTGACTAT AAAAACTGCC CCCCTCCTTT CCAAATAAGT GCATTTATTG : *326 28211573 : CCTCTATGTG CAACTGACAG ATGACCGCAA TAATGAATGA GCAGTTAGAA : 28211622 *327 : CCTCTATGTG CAACTGACAG ATGACCGCAA TAATGAATGA GCAGTTAGAA : *376 28211623 : ATACATTATG CTTGAGATGT CTTAACCTAT TCCCAAATGC CTTCTGTTTT : 28211672 *377 : ATACATTATG CTTGAGATGT CTTAACCTAT TCCCAAATGC CTTCTGTTTT : *426 28211673 : CCAAAGGAGT GGTCAAGCCC TTGCCCAGAG CTCTCTATTC TGGAAGAGCG : 28211722 *427 : CCAAAGGAGT GGTCAAGCCC TTGCCCAGAG CTCTCTATTC TGGAAGAGCG : *476 28211723 : GTCCAGGTGG GGCCGGGGAC TGGCCACTGA ATTATGCCAG GGCGCACTTT : 28211772 *477 : GTCCAGGTGG GGCCGGGGAC TGGCCACTGA ATTATGCCAG GGCGCACTTT : *526 28211773 : CCACTGGAGT TCACTTTCAA TTGCTTCTGT GCAATAAAAC CAAGTGCTTA : 28211822 *527 : CCACTGGAGT TCACTTTCAA TTGCTTCTGT GCAATAAAAC CAAGTGCTTA : *576 28211823 : TAAAATGAAA A--------- --- : 28211833 *577 : TAAAATGAAA AAAAAAAAAA AAA : *599
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:05:03
RefSeq ID NM_021076.2
GI 32483415
Length 3695 nucleotides
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Sequence
Legend: Blue = CDS, Red = UTR
-33 GCCCCGTCCC GGCCTCGCGC ACCTGCTCAG GCCATGATGA GCTTCGGCGG 17 18 CGCGGACGCG CTGCTGGGCG CCCCGTTCGC GCCGCTGCAT GGCGGCGGCA 67 68 GCCTCCACTA CGCGCTAGCC CGAAAGGGTG GCGCAGGCGG GACGCGCTCC 117 118 GCCGCTGGCT CCTCCAGCGG CTTCCACTCG TGGACACGGA CGTCCGTGAG 167 168 CTCCGTGTCC GCCTCGCCCA GCCGCTTCCG TGGCGCAGGC GCCGCCTCAA 217 218 GCACCGACTC GCTGGACACG CTGAGCAACG GGCCGGAGGG CTGCATGGTG 267 268 GCGGTGGCCA CCTCACGCAG TGAGAAGGAG CAGCTGCAGG CGCTGAACGA 317 318 CCGCTTCGCC GGGTACATCG ACAAGGTGCG GCAGCTGGAG GCGCACAACC 367 368 GCAGCCTGGA GGGCGAGGCT GCGGCGCTGC GGCAGCAGCA GGCGGGCCGC 417 418 TCCGCTATGG GCGAGCTGTA CGAGCGCGAG GTCCGCGAGA TGCGCGGCGC 467 468 GGTGCTGCGC CTGGGCGCGG CGCGCGGTCA GCTACGCCTG GAGCAGGAGC 517 518 ACCTGCTCGA GGACATCGCG CACGTGCGCC AGCGCCTAGA CGACGAGGCC 567 568 CGGCAGCGAG AGGAGGCCGA GGCGGCGGCC CGCGCGCTGG CGCGCTTCGC 617 618 GCAGGAGGCC GAGGCGGCGC GCGTGGACCT GCAGAAGAAG GCGCAGGCGC 667 668 TGCAGGAGGA GTGCGGCTAC CTGCGGCGCC ACCACCAGGA AGAGGTGGGC 717 718 GAGCTGCTCG GCCAGATCCA GGGCTCCGGC GCCGCGCAGG CGCAGATGCA 767 768 GGCCGAGACG CGCGACGCCC TGAAGTGCGA CGTGACGTCG GCGCTGCGCG 817 818 AGATTCGCGC GCAGCTTGAA GGCCACGCGG TGCAGAGCAC GCTGCAGTCC 867 868 GAGGAGTGGT TCCGAGTGAG GCTGGACCGA CTGTCGGAGG CAGCCAAGGT 917 918 GAACACAGAC GCTATGCGCT CAGCGCAGGA GGAGATAACT GAGTACCGGC 967 968 GTCAGCTGCA GGCCAGGACC ACAGAGCTGG AGGCACTGAA AAGCACCAAG 1017 1018 GACTCACTGG AGAGGCAGCG CTCTGAGCTG GAGGACCGTC ATCAGGCCGA 1067 1068 CATTGCCTCC TACCAGGAAG CCATTCAGCA GCTGGACGCT GAGCTGAGGA 1117 1118 ACACCAAGTG GGAGATGGCC GCCCAGCTGC GAGAATACCA GGACCTGCTC 1167 1168 AATGTCAAGA TGGCTCTGGA TATAGAGATA GCCGCTTACA GAAAACTCCT 1217 1218 GGAAGGTGAA GAGTGTCGGA TTGGCTTTGG CCCAATTCCT TTCTCGCTTC 1267 1268 CAGAAGGACT CCCCAAAATT CCCTCTGTGT CCACTCACAT AAAGGTGAAA 1317 1318 AGCGAAGAGA AGATCAAAGT GGTGGAGAAG TCTGAGAAAG AAACTGTGAT 1367 1368 TGTGGAGGAA CAGACAGAGG AGACCCAAGT GACTGAAGAA GTGACTGAAG 1417 1418 AAGAGGAGAA AGAGGCCAAA GAGGAGGAGG GCAAGGAGGA AGAAGGGGGT 1467 1468 GAAGAAGAGG AGGCAGAAGG GGGAGAAGAA GAAACAAAGT CTCCCCCAGC 1517 1518 AGAAGAGGCT GCATCCCCAG AGAAGGAAGC CAAGTCACCA GTAAAGGAAG 1567 1568 AGGCAAAGTC ACCGGCTGAG GCCAAGTCCC CAGAGAAGGA GGAAGCAAAA 1617 1618 TCCCCAGCCG AAGTCAAGTC CCCTGAGAAG GCCAAGTCTC CAGCAAAGGA 1667 1668 AGAGGCAAAG TCACCGCCTG AGGCCAAGTC CCCAGAGAAG GAGGAAGCAA 1717 1718 AATCTCCAGC TGAGGTCAAG TCCCCCGAGA AGGCCAAGTC CCCAGCAAAG 1767 1768 GAAGAGGCAA AGTCACCGGC TGAGGCCAAG TCTCCAGAGA AGGCCAAGTC 1817 1818 CCCAGTGAAG GAAGAAGCAA AGTCACCGGC TGAGGCCAAG TCCCCAGTGA 1867 1868 AGGAAGAAGC AAAATCTCCA GCTGAGGTCA AGTCCCCGGA AAAGGCCAAG 1917 1918 TCTCCAACGA AGGAGGAAGC AAAGTCCCCT GAGAAGGCCA AGTCCCCAGA 1967 1968 GAAGGAAGAG GCCAAGTCCC CTGAGAAGGC CAAGTCCCCA GTGAAGGCAG 2017 2018 AAGCAAAGTC CCCTGAGAAG GCCAAGTCCC CAGTGAAGGC AGAAGCAAAG 2067 2068 TCCCCTGAGA AGGCCAAGTC CCCAGTGAAG GAAGAAGCAA AGTCCCCTGA 2117 2118 GAAGGCCAAG TCCCCAGTGA AGGAAGAAGC AAAGTCCCCT GAGAAGGCCA 2167 2168 AGTCCCCAGT GAAGGAAGAA GCAAAGACCC CCGAGAAGGC CAAGTCCCCA 2217 2218 GTGAAGGAAG AAGCCAAGTC CCCAGAGAAG GCCAAGTCCC CAGAGAAGGC 2267 2268 CAAGACTCTT GATGTGAAGT CTCCAGAAGC CAAGACTCCA GCGAAGGAGG 2317 2318 AAGCAAGGTC CCCTGCAGAC AAATTCCCTG AAAAGGCCAA AAGCCCTGTC 2367 2368 AAGGAGGAGG TCAAGTCCCC AGAGAAGGCG AAATCTCCCC TGAAGGAGGA 2417 2418 TGCCAAGGCC CCTGAGAAGG AGATCCCAAA AAAGGAAGAG GTGAAGTCCC 2467 2468 CAGTGAAGGA GGAGGAGAAG CCCCAGGAGG TGAAAGTCAA AGAGCCCCCA 2517 2518 AAGAAGGCAG AGGAAGAGAA AGCCCCTGCC ACACCAAAAA CAGAGGAGAA 2567 2568 GAAGGACAGC AAGAAAGAGG AGGCACCCAA GAAGGAGGCT CCAAAGCCCA 2617 2618 AGGTGGAGGA GAAGAAGGAA CCTGCTGTCG AAAAGCCCAA AGAATCCAAA 2667 2668 GTTGAAGCCA AGAAGGAAGA GGCTGAAGAT AAGAAAAAAG TCCCCACCCC 2717 2718 AGAGAAGGAG GCTCCTGCCA AGGTGGAGGT GAAGGAAGAC GCTAAACCCA 2767 2768 AAGAAAAGAC AGAGGTAGCC AAGAAGGAAC CAGATGATGC CAAGGCCAAG 2817 2818 GAACCCAGCA AACCAGCAGA GAAGAAGGAG GCAGCACCGG AGAAAAAAGA 2867 2868 CACCAAGGAG GAGAAGGCCA AGAAGCCTGA GGAGAAACCC AAGACAGAGG 2917 2918 CCAAAGCCAA GGAAGATGAC AAGACCCTCT CAAAAGAGCC TAGCAAGCCT 2967 2968 AAGGCAGAAA AGGCTGAAAA ATCCTCCAGC ACAGACCAAA AAGACAGCAA 3017 3018 GCCTCCAGAG AAGGCCACAG AAGACAAGGC CGCCAAGGGG AAGTAAGGCA *4 *5 GGGAGAAAGG AACATCCGGA ACAGCCAAAG AAACTCAGAA GAGTCCCGGA *54 *55 GCTCAAGGAT CAGAGTAACA CAATTTTCAC TTTTTCTGTC TTTATGTAAG *104 *105 AAGAAACTGC TTAGATGACG GGGCCTCCTT CTTCAAACAG GAATTTCTGT *154 *155 TAGCAATATG TTAGCAAGAG AGGGCACTCC CAGGCCCCTG CCCCCAGGCC *204 *205 CTCCCCAGGC GATGGACAAT TATGATAGCT TATGTAGCTG AATGTGATAC *254 *255 ATGCCGAATG CCACACGTAA ACACTTGACT ATAAAAACTG CCCCCCTCCT *304 *305 TTCCAAATAA GTGCATTTAT TGCCTCTATG TGCAACTGAC AGATGACCGC *354 *355 AATAATGAAT GAGCAGTTAG AAATACATTA TGCTTGAGAT GTCTTAACCT *404 *405 ATTCCCAAAT GCCTTCTGTT TTCCAAAGGA GTGGTCAAGC CCTTGCCCAG *454 *455 AGCTCTCTAT TCTGGAAGAG CGGTCCAGGT GGGGCCGGGG ACTGGCCACT *504 *505 GAATTATGCC AGGGCGCACT TTCCACTGGA GTTCACTTTC AATTGCTTCT *554 *555 GTGCAATAAA ACCAAGTGCT TATAAAATGA AAAAAAAAAA AAAAA
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:05:03
RefSeq ID NP_066554.2
GI 32483416
Isoelectric Point 5.9036
Molecular Weight 111838 Daltons
Length 1020 amino acids
Download File | Text
Sequence
1 MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW 50 51 TRTSVSSVSA SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ 100 101 LQALNDRFAG YIDKVRQLEA HNRSLEGEAA ALRQQQAGRS AMGELYEREV 150 151 REMRGAVLRL GAARGQLRLE QEHLLEDIAH VRQRLDDEAR QREEAEAAAR 200 201 ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE LLGQIQGSGA 250 251 AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 300 301 SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE 350 351 DRHQADIASY QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA 400 401 AYRKLLEGEE CRIGFGPIPF SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS 450 451 EKETVIVEEQ TEETQVTEEV TEEEEKEAKE EEGKEEEGGE EEEAEGGEEE 500 501 TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS PAEVKSPEKA 550 551 KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 600 601 PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE 650 651 KAKSPEKEEA KSPEKAKSPV KAEAKSPEKA KSPVKAEAKS PEKAKSPVKE 700 701 EAKSPEKAKS PVKEEAKSPE KAKSPVKEEA KTPEKAKSPV KEEAKSPEKA 750 751 KSPEKAKTLD VKSPEAKTPA KEEARSPADK FPEKAKSPVK EEVKSPEKAK 800 801 SPLKEDAKAP EKEIPKKEEV KSPVKEEEKP QEVKVKEPPK KAEEEKAPAT 850 851 PKTEEKKDSK KEEAPKKEAP KPKVEEKKEP AVEKPKESKV EAKKEEAEDK 900 901 KKVPTPEKEA PAKVEVKEDA KPKEKTEVAK KEPDDAKAKE PSKPAEKKEA 950 951 APEKKDTKEE KAKKPEEKPK TEAKAKEDDK TLSKEPSKPK AEKAEKSSST 1000 1001 DQKDSKPPEK ATEDKAAKGK
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 97
1A 98 132
L1 133 142
1B 143 243
L12 244 265
2A 266 284
L2 285 292
2B 293 413
Tail 414 1020
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MONOCLONAL ANTIBODIES
Information last updated on 2008-08-25 16:53:01
Clone Name Species Reported Specificity Epitope Reference
mab1215 mouse NF-H - Kahn et al, 1987
N-52 mouse NF-H within phosphorylated (Lys-Ser-Pro) repeat domain with consensus cdk-5 sites -
NF-01 mouse NF-H - -
RT97 mouse NF-H - -
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RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT
The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 40755.
Information last updated on 2007-08-17 12:25:00
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Gallus gallus 417020 XM_415310.2 XP_415310.2 Vertebrates
Rattus norvegicus 24587 NM_012607.1 NP_036739.1 Rodents
Mus musculus 380684 NM_010904.3 NP_035034.1 Rodents
Pan troglodytes 458741 XM_001134737.1 XP_001134737.1 Primates
Canis familiaris 442940 NM_001003352.1 NP_001003352.1 Mammals
Caenorhabditis elegans 3565355 NM_001028850.1 NP_001024021.1 Invertebrates
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

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ASSOCIATED DISEASES
Information last updated on 2007-05-21 10:42:59
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Amyotrophic lateral sclerosis 1 ALS1 #105400
Neuronal intermediate filament inclusion disease NIFID
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SEQUENCE VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.

Click here to download an Excel spreadsheet of this data.

Click here to open table in a new window (for ease of viewing and printing).

Information last updated on 2007-05-21 10:42:59

* 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
9194 c.269C>T Substitution p.Ala90Val Substitution Head ALS1* Garcia et al, 2006
9195 c.745G>A Substitution p.Gly249Ser Substitution L12 ALS1* Garcia et al, 2006
9196 c.1054C>A Substitution p.Arg352Ser Substitution 2B ALS1* Garcia et al, 2006
9197 c.1138G>A Substitution p.Ala380Thr Substitution 2B ALS1* Garcia et al, 2006
9185 c.1554A>C Substitution p.= Silent Not affected NIFID* Momeni et al, 2006
9419 c.1582_1683del102 Deletion p.Ala528_Pro561del Deletion Tail ALS1 Figlewicz et al, 1994
9186 c.1629A>G Substitution p.= Silent Not affected NIFID* Momeni et al, 2006
9187 c.1836A>C Substitution p.= Silent Not affected NIFID* Momeni et al, 2006
9189 c.1878A>C Substitution p.= Silent Not affected NIFID* Momeni et al, 2006
9421 c.1965_1988del24 Deletion p.Glu656_Pro663del Deletion Tail ALS1 Al-Chalabi et al, 1999
9422 c.1989_2006del18 Deletion p.Glu664_Pro669del Deletion Tail ALS1 Al-Chalabi et al, 1999
11340 c.1989_2006del18 Deletion p.Glu664_Pro669del Deletion Tail ALS1 Al-Chalabi et al, 1999
11341 c.1989_2006del18 Deletion p.Glu664_Pro669del Deletion Tail ALS1 Al-Chalabi et al, 1999
9423 c.1989_2030del42 Deletion p.Glu664_Pro677del Deletion Tail ALS1 Al-Chalabi et al, 1999
9420 c.2124_2125ins84 Insertion p.Ala708_Lys709ins28 Insertion Tail ALS1 Tomkins et al, 1998
9424 c.2230_2247del18 Deletion p.Ala744_Lys749del Deletion Tail ALS1 Al-Chalabi et al, 1999
9415 c.2368_2370delAAG Deletion p.Lys790del Deletion Tail ALS1 Figlewicz et al, 1994
11324 c.2368_2370delAAG Deletion p.Lys790del Deletion Tail ALS1 Figlewicz et al, 1994
11325 c.2368_2370delAAG Deletion p.Lys790del Deletion Tail ALS1 Figlewicz et al, 1994
11326 c.2368_2370delAAG Deletion p.Lys790del Deletion Tail ALS1 Figlewicz et al, 1994
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ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family.

Click here to download an Excel spreadsheet of this data.

Click here to open table in a new window (for ease of viewing and printing).

Information last updated on 2007-05-15 09:48:19

* 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
8733 c.472C>T Substitution p.= Silent Not affected - - Vechio et al, 1996
8734 c.1203T>C Substitution p.= Silent Not affected - - Vechio et al, 1996
9564 c.1375G>A Substitution p.Glu459Lys Substitution Tail - - Vechio et al, 1996
9184 c.1387G>A Substitution p.Glu463Lys Substitution Tail - - Momeni et al, 2006
11786 c.1844C>T Substitution p.Pro615Leu Substitution Tail - - Figlewicz et al, 1993
8735 c.1844C>T Substitution p.Pro615Leu Substitution Tail - - Vechio et al, 1996
9188 c.1844C>T Substitution p.Pro615Leu Substitution Tail - - Momeni et al, 2006
9190 c.2232C>T Substitution p.= Silent Not affected - - Momeni et al, 2006
9191 c.2234A>T Substitution p.Lys745Met Substitution Tail - - Momeni et al, 2006
8736 c.2414C>A Substitution p.Ala805Glu Substitution Tail - - Vechio et al, 1996
9192 c.2414A>C Substitution p.Glu805Ala Substitution Tail - - Momeni et al, 2006
9193 c.2784A>G Substitution p.= Silent Not affected - - Momeni et al, 2006
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