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| Protein Name | keratin 81, K81 |
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| Former Protein Name | Hb1 |
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| Gene Symbol | KRT81 |
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| Former Gene Symbol | KRTHB1 |
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| Intermediate Filament Type | II |
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| HGNC ID | 6458 |
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| OMIM ID | *602153 |
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| NCBI Gene ID | 3887 |
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 INTEGRATED SEQUENCE VIEW |
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Information last updated on 2009-07-21 16:58:38 * variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications. | Chromosome | 12q13 |
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| Chromosome Strand | - |
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| Chromosome GI | 51511728 |
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| Chromosome RefSeq ID | NC_000012.9 |
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50971566 : ACTCCAGGTC CCCTATCCTG TCCTCTGCAA CCCAAACGTC CAGGAGGATC : 50971517
-50 : ACTCCAGGTC CCCTATCCTG TCCTCTGCAA CCCAAACGTC CAGGAGGATC : -1
50971516 : ATGACCTGCG GATCAGGATT TGGTGGGCGC GCCTTCAGCT GCATCTCGGC : 50971467
1 : ATGACCTGCG GATCAGGATT TGGTGGGCGC GCCTTCAGCT GCATCTCGGC : 50
1 : M T C G S G F G G R A F S C I S A : 17
50971466 : CTGCGGGCCG CGGCCCGGCC GCTGCTGCAT CACCGCCGCC CCCTACCGTG : 50971417
51 : CTGCGGGCCG CGGCCCGGCC GCTGCTGCAT CACCGCCGCC CCCTACCGTG : 100
18 : C G P R P G R C C I T A A P Y R : 33
50971416 : GCATCTCCTG CTACCGCGGC CTCACCGGGG GCTTCGGCAG CCACAGCGTG : 50971367
101 : GCATCTCCTG CTACCGCGGC CTCACCGGGG GCTTCGGCAG CCACAGCGTG : 150
34 : G I S C Y R G L T G G F G S H S V : 50
50971366 : TGCGGAGGCT TTCGGGCCGG CTCCTGCGGA CGCAGCTTCG GCTACCGCTC : 50971317
151 : TGCGGAGGCT TTCGGGCCGG CTCCTGCGGA CGCAGCTTCG GCTACCGCTC : 200
51 : C G G F R A G S C G R S F G Y R S : 67
50971316 : CGGGGGCGTG TGCGGGCCCA GTCCCCCATG CATCACCACC GTGTCGGTCA : 50971267
201 : CGGGGGCGTG TGCGGGCCCA GTCCCCCATG CATCACCACC GTGTCGGTCA : 250
68 : G G V C G P S P P C I T T V S V : 83
50971266 : ACGAGAGCCT CCTCACGCCC CTCAACCTGG AGATCGACCC CAACGCGCAG : 50971217
251 : ACGAGAGCCT CCTCACGCCC CTCAACCTGG AGATCGACCC CAACGCGCAG : 300
84 : N E S L L T P L N L E I D P N A Q : 100
50971216 : TGCGTGAAGC AGGAGGAGAA GGAGCAGATC AAGTCCCTCA ACAGCAGGTT : 50971167
301 : TGCGTGAAGC AGGAGGAGAA GGAGCAGATC AAGTCCCTCA ACAGCAGGTT : 350
101 : C V K Q E E K E Q I K S L N S R F : 117
50971166 : CGCGGCCTTC ATCGACAAGG TGGGTGTCCT GGATCACACC CTTCCTGAAC : 50971117
351 : CGCGGCCTTC ATCGACAAG : 369
118 : A A F I D K : 123
50971116 : CCCCACCACC TACACAGCCA GGGCCGGGCA CTAAGGATGG AGTCAGAGGC : 50971067
50971066 : ACAAAGACCT CTGCCTGCCT GAGATCCCAG TCTGATGGGC GAGGCACACA : 50971017
50971016 : GACACACAGA CAGACAGACA CATGCACAGA CACACACACA CAGGCACTCA : 50970967
50970966 : AGATGCAGAC TCAGCTGACA GTTCAGATAG AGGGAGCTTG TGAAGGAAAA : 50970917
50970916 : GTGTGGCCAG GCTGCTCTGG GGCACAAGCT AGACATCAGG GAGTTGGGGG : 50970867
50970866 : AGGGGGGCAT GTGACCACTG CTGCTGAACT CAGAGGGGTT TGGGCAGCCC : 50970817
50970816 : CAGGGTGAGA GAGTAGGGTG CACTGACTTC CAGATGACAC AGGGGAAGGG : 50970767
50970766 : CTGGGACAGC TGAGCTCCCT TCCAGATGGC CTGTGACACC CTCTTCCTGG : 50970717
50970716 : CACCATCCCC AGAAACCTCA TCTGTGATCT GAACCTGAGT ACTCTGCCTG : 50970667
50970666 : TGTGGGTTGC TGATCACCTA GTTTCATAGT GAGGGACTGA GCCTCCACTT : 50970617
50970616 : CTGTTCATCT GCTTGGGTTG GGGGGGGGGG GTCACTCAAC TCCCCAGGGA : 50970567
50970566 : GCAGGCACTG ACACCACCCA GCCCTTGCTC CACTCCTGAG TGGGAAATCT : 50970517
50970516 : AGACACAGAT CATGACCAGG AAATCCAGAA ATTGTCTGTC TCCCACTGCC : 50970467
50970466 : CACCTCTACT CAATCTCAGA TAAGCTCCAG ATTTGGGGGT TCCCATTAAA : 50970417
50970416 : GCACCTCCCC TGCGAGCCCC CAGAGCTGGC TTTGGGGCAC CAGACACCAT : 50970367
50970366 : CTGCCCCACC TTCCCACACC GAATGGCAGG TGCGCTTCCT GGAGCAGCAG : 50970317
370 : G TGCGCTTCCT GGAGCAGCAG : 390
124 : V R F L E Q Q : 130
50970316 : AACAAACTGC TGGAGACAAA GCTGCAGTTC TACCAGAACC GCGAGTGTTG : 50970267
391 : AACAAACTGC TGGAGACAAA GCTGCAGTTC TACCAGAACC GCGAGTGTTG : 440
131 : N K L L E T K L Q F Y Q N R E C C : 147
50970266 : CCAGAGCAAC CTGGAGCCCC TGTTTGAGGG CTACATCGAG ACTCTGCGGC : 50970217
441 : CCAGAGCAAC CTGGAGCCCC TGTTTGAGGG CTACATCGAG ACTCTGCGGC : 490
148 : Q S N L E P L F E G Y I E T L R : 163
50970216 : GGGAGGCCGA GTGCGTGGAG GCCGACAGCG GGAGGCTGGC CTCAGAGCTT : 50970167
491 : GGGAGGCCGA GTGCGTGGAG GCCGACAGCG GGAGGCTGGC CTCAGAGCTT : 540
164 : R E A E C V E A D S G R L A S E L : 180
50970166 : AACCACGTGC AGGAGGTGCT GGAGGGCTAC AAGAAGAAGT GAGTGCGGGC : 50970117
541 : AACCACGTGC AGGAGGTGCT GGAGGGCTAC AAGAAGAA : 578
181 : N H V Q E V L E G Y K K K : 193
50970116 : AAGAGGGATG CTGGGCACAG GAATGGGGTT TAGGTTAAAT ACACTGGATT : 50970067
50970066 : AGACAATAAG AACTCCCAGG TAGGGTGAGT GGCCATGACC ACTAGATTGA : 50970017
50970016 : CCGAGGGTGG CGGGGTCTTT TCCTTTGTGG AATCTTTGCC CAGACACCTG : 50969967
50969966 : TGTAAGAGGA GGGCTGTGAC TCCCATGACC TGTCTCTGTC CCACTTCAGC : 50969917
50969916 : CTTCTCTCCC TGAACCACAT CACCCAGCAG CTCTCCCCTG CGCTGGGTGG : 50969867
50969866 : GGAGGAAGCC TCTGCAGGGT CCAGGCCTTC TCTCCTGACC CTCAGCCCCT : 50969817
50969816 : ATACTTGTAG CACCTGTCAG ATGTGAGCCC AGGGTCTCTC ATGAGTGACA : 50969767
50969766 : GGTCTTGGGC TCTGGGTGTC CCACTGCCTT AGGTTCTAAG TCCTGAGGGT : 50969717
50969716 : CTGCGGGTCC AGGAGGCCCC ATACCTGAGC TGGGATTGAT ACCAGTGAGG : 50969667
50969666 : GGAGGCTAGG GCTACAGGCC CTGAGAGTCC ACGCTGTCCA CTCCCAGGAT : 50969617
50969616 : GGGGCTGGGG GCTGAGTCCT ATTTGCCTCC TGGGGGACCT CAGAGCCCCT : 50969567
50969566 : TTGGGAACAG GACTGGGAGG TCCCAGATGA GCACTCTCCA TCCCCAGTTC : 50969517
50969516 : AAAGTGGATA GAGAATCCCA GACACATCCC ACATCCAACT AGAAAGCACT : 50969467
50969466 : AAGCTAGGCT GCCAGGCCGG GGCTGTGTGG AGGTGTTTCT AGTACTGTCC : 50969417
50969416 : CCATGGCTGT GATGAAGTGT GATGTGATGG TGGCTCTGCA GAGACCTGCC : 50969367
50969366 : CTGCCCTGAC CTCCCCTCTC TTCCCTCTGC TCTGTCTCAG GTATGAGGAG : 50969317
579 : GTATGAGGAG : 588
194 : Y E E : 196
50969316 : GAGGTTTCTC TGAGAGCAAC AGCTGAGAAC GAGTTTGTGG CTCTGAAGAA : 50969267
589 : GAGGTTTCTC TGAGAGCAAC AGCTGAGAAC GAGTTTGTGG CTCTGAAGAA : 638
197 : E V S L R A T A E N E F V A L K K : 213
50969266 : GGCAAGTGAC ACAGGATTGA GAAGCACAGA TCTGTGGGAT CTCAGAATGA : 50969217
639 : G : 639
50969216 : CAGATTCTTC CTGGGGACAC ACAGGGGGTC TCAACCTCAG CGTGGGGCAC : 50969167
50969166 : AATGACCTTT CCACAGCAGG CTAGGACTGC CCAGATGCAG GCCTTTGTAT : 50969117
50969116 : TGAGCATCCA GGGCCTTGAC AAAGGGCAAT GACTTGGGAA TATCTACCAG : 50969067
50969066 : CACCTACCTT GGGCAAGGGG ATGGCTGCAC TGTCCTCTGT GTGTCCTGCT : 50969017
50969016 : CTGTTCCAGA GGTTGTGGTC TATTGCTGAG GCCCCTGGAG CCATAGCAGA : 50968967
50968966 : TACAATGTCT CTGCTGAGAG ACAGTGCAGT CTGTCTAGCA TTTTGGGGAG : 50968917
50968916 : TCTGACCTTG AGGCAGAGAC ACAATCCCAG GGTCTAAGGG GGGATGGAGA : 50968867
50968866 : AGAACCAGGA GCAGCCACTG GGCTCTTGGA GCACTTGTGG GGGACAGGAA : 50968817
50968816 : AGGGTCAGGG TGTGAGAGCT GGGGGGTCAG TCTGGGCAGG CTTCCTGGAG : 50968767
50968766 : CAGGAGATGA GAGAAGGGAG AGACAGGAGG GCAAGGAGGG GTGAAAGGCT : 50968717
50968716 : GGTGAGGCAT GGTCAAGGCA AACAGGGTTT GTCATCAGAG GGACAGAGGA : 50968667
50968666 : TGCCAGCTCA TCCCAGGAAG GGCAGAAGGG GAGGAAAGGC ATGGGAATGG : 50968617
50968616 : GACACCAGGG ACTGCTTTCC CCTGGCTACA TGGAATGGAT GGGCAGAGAG : 50968567
50968566 : AGGAGTCTGG GGGCTGGATC ACCAGGGTCC TTGAGCTCCA ACACTCCCCA : 50968517
50968516 : CCTTTCCAGG ATGTGGACTG CGCCTACCTC CGCAAGTCAG ACCTGGAGGC : 50968467
640 : G ATGTGGACTG CGCCTACCTC CGCAAGTCAG ACCTGGAGGC : 680
214 : D V D C A Y L R K S D L E A : 227
50968466 : CAACGTGGAG GCCCTGATCC AGGAGATCGA CTTCCTGAGG CGGCTGTATG : 50968417
681 : CAACGTGGAG GCCCTGATCC AGGAGATCGA CTTCCTGAGG CGGCTGTATG : 730
228 : N V E A L I Q E I D F L R R L Y : 243
VARIANTS : T : VARIANTS
50968416 : AGGAGGTGCG GGCTCAGGGG CCAGACAGAA ACCTGGCAGC CAGCAGAGAG : 50968367
731 : AGGAG : 735
244 : E E : 245
50968366 : GAGAGTTGGG GGTGGGAGTG TTGGACAGGA TGTGGGTAGA GGTTGCAGTC : 50968317
50968316 : CCTGAGGCTG TGTGAGGGGG CAGGGTTGGG GACCAGAGAA AGCCTGAGGA : 50968267
50968266 : GGTGGAGTCA GGACATGGTG GGTGGGGCTG TATTCTCAAC TAAAGTCACT : 50968217
50968216 : GCCCTCACCT CCTGCAGGAG ATCCTCATTC TCCAGTCGCA CATCTCAGAC : 50968167
736 : GAG ATCCTCATTC TCCAGTCGCA CATCTCAGAC : 768
246 : E I L I L Q S H I S D : 256
50968166 : ACCTCCGTGG TTGTCAAGCT GGACAACAGC CGGGACCTGA ACATGGACTG : 50968117
769 : ACCTCCGTGG TTGTCAAGCT GGACAACAGC CGGGACCTGA ACATGGACTG : 818
257 : T S V V V K L D N S R D L N M D C : 273
50968116 : CATCATTGCC GAGATTAAGG CACAGTATGA CGACATTGTC ACCCGCAGCC : 50968067
819 : CATCATTGCC GAGATTAAGG CACAGTATGA CGACATTGTC ACCCGCAGCC : 868
274 : I I A E I K A Q Y D D I V T R S : 289
50968066 : GGGCCGAGGC CGAGTCCTGG TACCGCAGCA AGGTGAGTGG CACAGGACAC : 50968017
869 : GGGCCGAGGC CGAGTCCTGG TACCGCAGCA AG : 900
290 : R A E A E S W Y R S K : 300
50968016 : CTGCCTGCTA GACGTGTCAG TGGGAGGGAT GTGAGATATC TATTAAATAG : 50967967
50967966 : GCTTCCTTTT CTGGGGATGC TGGTCCCTAG GGATGAGAAG AGAGGGCTGC : 50967917
50967916 : CAATCTGAGG TTGGGGTGGC AGGGCAGGAC TGCCATGTGT GGCTGCACAG : 50967867
50967866 : GCTGAGCACT GTACAACCTG CAAAATCATC TGTGGTGTCC TGAATGGATG : 50967817
50967816 : GGAGGTCCCA CCCTGAACCT CATGAGCATC TCTACTTCCC CCAGTGTGAG : 50967767
901 : TGTGAG : 906
301 : C E : 302
50967766 : GAGATGAAGG CCACGGTGAT CAGGCACGGG GAGACCCTGC GCCGCACCAA : 50967717
907 : GAGATGAAGG CCACGGTGAT CAGGCACGGG GAGACCCTGC GCCGCACCAA : 956
303 : E M K A T V I R H G E T L R R T K : 319
50967716 : GGAGGAGATC AATGAGCTGA ACCGCATGAT CCAAAGGCTG ACGGCCGAGG : 50967667
957 : GGAGGAGATC AATGAGCTGA ACCGCATGAT CCAAAGGCTG ACGGCCGAGG : 1006
320 : E E I N E L N R M I Q R L T A E : 335
50967666 : TGGAGAATGC CAAGTGCCAG GTATGGGGCA TCTGTGCGCA AGGTCAGAGA : 50967617
1007 : TGGAGAATGC CAAGTGCCAG : 1026
336 : V E N A K C Q : 342
50967616 : GACCGAGGGC CTAACCATTG TCACACAGCC TATGTGTGCC CTACCTGGAT : 50967567
50967566 : CTCAGCATTC ATTCTCCACC CCCTTTGTCC ATGTAGAGTC CCTGGTCGTG : 50967517
50967516 : GTCTCTCAAT GAGTCCCAGG TGATAAAGGC AAGAGGCTCT GTTCTGGGGT : 50967467
50967466 : GCTCCCAGCT TGGTGGGGAG TGTGGTCTCA TTTGGATGAG CATCAGAGAG : 50967417
VARIANTS : : VARIANTS
50967416 : ACCCAGGGAC TCTAATCTAC CTTGTTCTTT CTGTTCTCTT CAGAACTCCA : 50967367
1027 : AACTCCA : 1033
343 : N S : 344
50967366 : AGCTGGAGGC CGCGGTGGCC CAGTCTGAGC AGCAGGGTGA GGCGGCCCTC : 50967317
1034 : AGCTGGAGGC CGCGGTGGCC CAGTCTGAGC AGCAGGGTGA GGCGGCCCTC : 1083
345 : K L E A A V A Q S E Q Q G E A A L : 361
50967316 : AGTGATGCCC GCTGCAAGCT GGCCGAGCTG GAGGGCGCCC TGCAGAAGGC : 50967267
1084 : AGTGATGCCC GCTGCAAGCT GGCCGAGCTG GAGGGCGCCC TGCAGAAGGC : 1133
362 : S D A R C K L A E L E G A L Q K A : 378
50967266 : CAAGCAGGAC ATGGCCTGCC TGATCAGGGA GTACCAGGAG GTGATGAACT : 50967217
1134 : CAAGCAGGAC ATGGCCTGCC TGATCAGGGA GTACCAGGAG GTGATGAACT : 1183
379 : K Q D M A C L I R E Y Q E V M N : 394
VARIANTS : A : VARIANTS
50967216 : CCAAGCTGGG CCTGGACATC GAGATCGCCA CCTACAGGCG CCTGCTGGAG : 50967167
1184 : CCAAGCTGGG CCTGGACATC GAGATCGCCA CCTACAGGCG CCTGCTGGAG : 1233
395 : S K L G L D I E I A T Y R R L L E : 411
VARIANTS : K : VARIANTS
VARIANTS : A : VARIANTS
50967166 : GGCGAGGAGC AGAGGTGGGT CCAACCAAGG GTGGCCCAGA ACCACCCTTC : 50967117
1234 : GGCGAGGAGC AGAG : 1247
412 : G E E Q R : 416
VARIANTS : K : VARIANTS
50967116 : CCCATCCCTG GCACAAGCCT ACCCTTGGCC TTGGCTGAGC AATGGCCAGG : 50967067
50967066 : GCTCTGGGGG AAAAAAATAT TATTATTCAC TTCCGGTGTG GGGAGGGCTG : 50967017
50967016 : GTGTGTGAGT TTGTCTGAGG CAAGCTGTTC CCTCAGACTC TGTTCTTAAT : 50966967
50966966 : TGACCAGTTG TGGACCCTAC CCTATGAACT GGGGAGCTTT TTCAGCCACT : 50966917
50966916 : CTGGGGCAGT CACTAATGTT GCCTTTTTCT CTTTTGCCCT CAGGCTATGT : 50966867
1248 : GCTATGT : 1254
417 : L C : 418
50966866 : GAAGGCATTG GGGCTGTGAA TGTCTGTGAG TATTTGGGGT CCAGTGTGGA : 50966817
1255 : GAAGGCATTG GGGCTGTGAA TGTCT : 1279
419 : E G I G A V N V : 426
50966816 : CAGATTTACT AACTACCTGT GATGGAGGGC AGAGTTTGGA AAAAGGAGTG : 50966767
50966766 : TTACTGAGAT TGAATATAAA AGAGTGGGCT GGCATCACAA CAGGAGGGAT : 50966717
50966716 : TTGGGGTCAG ACATCCAAAA GACCCCAGCT CTTGGACTAG ATGGACCTAG : 50966667
50966666 : AATTGTCCAC AAAGATGCTT CTGACTTTTC ATACCAGAGC TCAGGTCTTG : 50966617
50966616 : GGCAGGGGCG GTTGTCAGGA AGGCAGGATG GCTTGCCCTT CAGAATTTTG : 50966567
50966566 : ACTCAGCCTT CGGGGTTCAC AGGTGTCAGC AGCTCCCGGG GCGGGGTCGT : 50966517
1280 : GTGTCAGC AGCTCCCGGG GCGGGGTCGT : 1307
427 : C V S S S R G G V V : 436
50966516 : GTGCGGGGAC CTCTGCGTGT CAGGCTCCCG GCCAGTGACT GGCAGTGTCT : 50966467
1308 : GTGCGGGGAC CTCTGCGTGT CAGGCTCCCG GCCAGTGACT GGCAGTGTCT : 1357
437 : C G D L C V S G S R P V T G S V : 452
50966466 : GCAGCGCTCC GTGCAACGGG AACGTGGCGG TGAGCACCGG CCTGTGTGCG : 50966417
1358 : GCAGCGCTCC GTGCAACGGG AACGTGGCGG TGAGCACCGG CCTGTGTGCG : 1407
453 : C S A P C N G N V A V S T G L C A : 469
50966416 : CCCTGCGGCC AATTGAACAC CACCTGCGGA GGGGGTTCCT GCGGCGTGGG : 50966367
1408 : CCCTGCGGCC AATTGAACAC CACCTGCGGA GGGGGTTCCT GCGGCGTGGG : 1457
470 : P C G Q L N T T C G G G S C G V G : 486
50966366 : CTCCTGTGGT ATCAGCTCCC TGGGTGTGGG GTCTTGCGGC AGCAGCTGCC : 50966317
1458 : CTCCTGTGGT ATCAGCTCCC TGGGTGTGGG GTCTTGCGGC AGCAGCTGCC : 1507
487 : S C G I S S L G V G S C G S S C : 502
50966316 : GGAAATGTTA GGCACCCCAA CTCAAGTCCC AGGCCCCAGG CATCTTTCCT : 50966267
1508 : GGAAATGTTA GGCACCCCAA CTCAAGTCCC AGGCCCCAGG CATCTTTCCT : *39
503 : R K C : 505
50966266 : GCCCTGCCTT GCTTGGCCCA TCCAGTCCAG GCGCCTGGAG CAAGTGCTCA : 50966217
*40 : GCCCTGCCTT GCTTGGCCCA TCCAGTCCAG GCGCCTGGAG CAAGTGCTCA : *89
50966216 : GCTACTTCTC CTGCACTTTG AAAGACCCCT CCCACTCCTG GCCTCACATT : 50966167
*90 : GCTACTTCTC CTGCACTTTG AAAGACCCCT CCCACTCCTG GCCTCACATT : *139
50966166 : TCTCTGTGTG ATCCCCCACT TCTGGGCTCT GCCACCCCAC AGTGGGAAAG : 50966117
*140 : TCTCTGTGTG ATCCCCCACT TCTGGGCTCT GCCACCCCAC AGTGGGAAAG : *189
50966116 : GCCACCCTAG AAAGAAGTCC GCTGGCACCC ATAGGAAGGG GCCTCAGGAG : 50966067
*190 : GCCACCCTAG AAAGAAGTCC GCTGGCACCC ATAGGAAGGG GCCTCAGGAG : *239
50966066 : CAGGAAGGGC CAGGACCAGA ACCTTGCCCA CGGCAACTGC CTTCCTGCCT : 50966017
*240 : CAGGAAGGGC CAGGACCAGA ACCTTGCCCA CGGCAACTGC CTTCCTGCCT : *289
50966016 : CTCCCCTTCC TCCTCTGCTC TTGATCTGTG TTTCAATAAA TTAATGTAGC : 50965967
*290 : CTCCCCTTCC TCCTCTGCTC TTGATCTGTG TTTCAATAAA TTAATGTAGC : *339
50965966 : CAA------- --------- : 50965964
*340 : CAAAAAAAAA AAAAAAAAA : *358
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| mRNA SEQUENCE |
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Reference sequence last updated on 2009-07-21 16:58:38 | RefSeq ID | NM_002281.3 |
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| GI | 169790852 |
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| Length | 1926 nucleotides |
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| Download | File | Text |
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| Sequence | Legend: Blue = CDS, Red = UTR -50 ACTCCAGGTC CCCTATCCTG TCCTCTGCAA CCCAAACGTC CAGGAGGATC -1
1 ATGACCTGCG GATCAGGATT TGGTGGGCGC GCCTTCAGCT GCATCTCGGC 50
51 CTGCGGGCCG CGGCCCGGCC GCTGCTGCAT CACCGCCGCC CCCTACCGTG 100
101 GCATCTCCTG CTACCGCGGC CTCACCGGGG GCTTCGGCAG CCACAGCGTG 150
151 TGCGGAGGCT TTCGGGCCGG CTCCTGCGGA CGCAGCTTCG GCTACCGCTC 200
201 CGGGGGCGTG TGCGGGCCCA GTCCCCCATG CATCACCACC GTGTCGGTCA 250
251 ACGAGAGCCT CCTCACGCCC CTCAACCTGG AGATCGACCC CAACGCGCAG 300
301 TGCGTGAAGC AGGAGGAGAA GGAGCAGATC AAGTCCCTCA ACAGCAGGTT 350
351 CGCGGCCTTC ATCGACAAGG TGCGCTTCCT GGAGCAGCAG AACAAACTGC 400
401 TGGAGACAAA GCTGCAGTTC TACCAGAACC GCGAGTGTTG CCAGAGCAAC 450
451 CTGGAGCCCC TGTTTGAGGG CTACATCGAG ACTCTGCGGC GGGAGGCCGA 500
501 GTGCGTGGAG GCCGACAGCG GGAGGCTGGC CTCAGAGCTT AACCACGTGC 550
551 AGGAGGTGCT GGAGGGCTAC AAGAAGAAGT ATGAGGAGGA GGTTTCTCTG 600
601 AGAGCAACAG CTGAGAACGA GTTTGTGGCT CTGAAGAAGG ATGTGGACTG 650
651 CGCCTACCTC CGCAAGTCAG ACCTGGAGGC CAACGTGGAG GCCCTGATCC 700
701 AGGAGATCGA CTTCCTGAGG CGGCTGTATG AGGAGGAGAT CCTCATTCTC 750
751 CAGTCGCACA TCTCAGACAC CTCCGTGGTT GTCAAGCTGG ACAACAGCCG 800
801 GGACCTGAAC ATGGACTGCA TCATTGCCGA GATTAAGGCA CAGTATGACG 850
851 ACATTGTCAC CCGCAGCCGG GCCGAGGCCG AGTCCTGGTA CCGCAGCAAG 900
901 TGTGAGGAGA TGAAGGCCAC GGTGATCAGG CACGGGGAGA CCCTGCGCCG 950
951 CACCAAGGAG GAGATCAATG AGCTGAACCG CATGATCCAA AGGCTGACGG 1000
1001 CCGAGGTGGA GAATGCCAAG TGCCAGAACT CCAAGCTGGA GGCCGCGGTG 1050
1051 GCCCAGTCTG AGCAGCAGGG TGAGGCGGCC CTCAGTGATG CCCGCTGCAA 1100
1101 GCTGGCCGAG CTGGAGGGCG CCCTGCAGAA GGCCAAGCAG GACATGGCCT 1150
1151 GCCTGATCAG GGAGTACCAG GAGGTGATGA ACTCCAAGCT GGGCCTGGAC 1200
1201 ATCGAGATCG CCACCTACAG GCGCCTGCTG GAGGGCGAGG AGCAGAGGCT 1250
1251 ATGTGAAGGC ATTGGGGCTG TGAATGTCTG TGTCAGCAGC TCCCGGGGCG 1300
1301 GGGTCGTGTG CGGGGACCTC TGCGTGTCAG GCTCCCGGCC AGTGACTGGC 1350
1351 AGTGTCTGCA GCGCTCCGTG CAACGGGAAC GTGGCGGTGA GCACCGGCCT 1400
1401 GTGTGCGCCC TGCGGCCAAT TGAACACCAC CTGCGGAGGG GGTTCCTGCG 1450
1451 GCGTGGGCTC CTGTGGTATC AGCTCCCTGG GTGTGGGGTC TTGCGGCAGC 1500
1501 AGCTGCCGGA AATGTTAGGC ACCCCAACTC AAGTCCCAGG CCCCAGGCAT *32
*33 CTTTCCTGCC CTGCCTTGCT TGGCCCATCC AGTCCAGGCG CCTGGAGCAA *82
*83 GTGCTCAGCT ACTTCTCCTG CACTTTGAAA GACCCCTCCC ACTCCTGGCC *132
*133 TCACATTTCT CTGTGTGATC CCCCACTTCT GGGCTCTGCC ACCCCACAGT *182
*183 GGGAAAGGCC ACCCTAGAAA GAAGTCCGCT GGCACCCATA GGAAGGGGCC *232
*233 TCAGGAGCAG GAAGGGCCAG GACCAGAACC TTGCCCACGG CAACTGCCTT *282
*283 CCTGCCTCTC CCCTTCCTCC TCTGCTCTTG ATCTGTGTTT CAATAAATTA *332
*333 ATGTAGCCAA AAAAAAAAAA AAAAAA
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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 55645. Information last updated on 2007-08-17 12:20:59 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 2006-09-26 08:50:20
* variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
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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.
Click here to open table in a new window (for ease of viewing and printing).
Information last updated on 2006-09-26 08:50:20
* variant associated with disease as a risk factor rather than a causal factor. Note: Sequences are numbered according to latest reference sequence information. Discrepancies may exist with some publications.
| ID | DNA Allelic Variant | DNA Allelic Variant Type | Protein Allelic Variant | Protein Allelic Variant Type | Domain | Population Studied | Allele Frequency | Reference |
|---|
| 8893 | c.735+4C>T | Substitution | p.= | Silent | Not affected | Caucasian | - | van Steensel et al, 2005 | | 9311 | c.1027-13_1027-14insT | Insertion | p.= | Silent | Not affected | Indian | - | Khandpur et al, 2004 | | 11279 | c.1027-13_1027-14insT | Insertion | p.= | Silent | Not affected | Indian | - | Khandpur et al, 2004 | | 9271 | c.1053T>C | Substitution | p.= | Silent | Not affected | Indian | - | Khandpur et al, 2004 | | 9272 | c.1077A>G | Substitution | p.= | Silent | Not affected | Indian | - | Khandpur et al, 2004 |
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