Human Intermediate Filament Database

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Human Intermediate Filament Database - K6b

Intermediate Filament Details

Protein Name	keratin 6b, K6b
Gene Symbol	KRT6B
Intermediate Filament Type	II
HGNC ID	6444
OMIM ID	*148042
NCBI Gene ID	3854

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:06:14
* 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 12q12-q13
Chromosome Strand -
Chromosome GI 51511728
Chromosome RefSeq ID NC_000012.9
51132177 : CGCCTCCAGC CTCTCACACT CTCCTAAGCC CTCTCATCTC CTGGAACCAT : 51132128 -48 : CGCCTCCAGC CTCTCACACT CTCCTAAGCC CTCTCATCTC CTGGAACCAT : 2 1 : M : 1 51132127 : GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT : 51132078 3 : GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT : 52 2 : A S T S T T I R S H S S S R R G : 17 51132077 : TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC : 51132028 53 : TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC : 102 18 : F S A N S A R L P G V S R S G F S : 34 51132027 : AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGCGCATG : 51131978 103 : AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGCGCATG : 152 35 : S I S V S R S R G S G G L G G A C : 51 51131977 : TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA : 51131928 153 : TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA : 202 52 : G G A G F G S R S L Y G L G G S : 67 51131927 : AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC : 51131878 203 : AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC : 252 68 : K R I S I G G G S C A I S G G Y G : 84 51131877 : AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG : 51131828 253 : AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG : 302 85 : S R A G G S Y G F G G A G S G F G : 101 51131827 : TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC : 51131778 303 : TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC : 352 102 : F G G G A G I G F G L G G G A G : 117 51131777 : TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC : 51131728 353 : TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC : 402 118 : L A G G F G G P G F P V C P P G G : 134 51131727 : ATCCAAGAGG TCACTGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA : 51131678 403 : ATCCAAGAGG TCACTGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA : 452 135 : I Q E V T V N Q S L L T P L N L Q : 151 51131677 : AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA : 51131628 453 : AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA : 502 152 : I D P A I Q R V R A E E R E Q I : 167 VARIANTS : ddd : VARIANTS 51131627 : AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAGGT GAGCCAGTGC : 51131578 503 : AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAG : 540 168 : K T L N N K F A S F I D K : 180 VARIANTS : d : VARIANTS 51131577 : CATGCCCTCC ATCGGGCACT TCAGGGTCCC CAGACCAGAA GAGCAACACC : 51131528 51131527 : TTCCTGCCGG AGAGACCCTA GGAGGGAGGG AGAAGGGGAC TCAGCCCAGC : 51131478 51131477 : TCTGCAGAGA GTGCAGGTGG CTCTCGGTGC ACAGGAGGCA GCACAGATGG : 51131428 51131427 : GCATCACTCC CCCATGGGAT ATCTGGAGTG GCCCTCACTC CTGCCTAGGG : 51131378 51131377 : AGAGCCATAA CTTTTCATAA CCCTGAAGCA CAGATGAGGC CATCAGAGAG : 51131328 51131327 : TGGAGTAGGT TAATTCTCCC CTCTGAAGTG TTTAAGAGAT TACAAAGCAA : 51131278 51131277 : ATGCCAGGAG TATATGGGCT GGTAAATTAC ACTCTGGGGT CTGGGTAAGA : 51131228 51131227 : GGAAAAAGAT TTAGAAAGAA AAGGAAAAGA TAATCTGGCT GGATTAAGAA : 51131178 51131177 : AAAAAGGGAC ATAGAAACAA CTGTAAAACA TGGATAAATG CTAATTAATT : 51131128 51131127 : TTAAAAACAG AGAATGACCA TAACATCAGA ATATTTGAGA GGAGACACTA : 51131078 51131077 : AATGGGAAAG TAGACTGAAA TGTAATCATG AGTCAACATC TAATATCCCT : 51131028 51131027 : CCTAACTAAG ATCCTCTCGG TAAAAAAAAC TGTGTACAAT ATATCAGGTA : 51130978 51130977 : ATTAGTATTT TTAAACTAGA TTTGTGATTG TGCTTGGAAA AAGAAAAGAA : 51130928 51130927 : GAAATGTTGA AACTCACTGA TGATCAATAG CTTACAGTGC GAGAACACCT : 51130878 51130877 : CAGTGGTCCG TGGGACAATT TCTCTAGTGA GACTGGTGGG GTGCAAAGGA : 51130828 51130827 : GAAGGAGTTG GGGGAGCAGA GCTCAGCCTG AGCCTCTCTA CATGCACTGT : 51130778 51130777 : AGTAGCCCAG CACCATGGGG ACCTCCCAGA CCTCCAGGAA ACTGGATACC : 51130728 51130727 : AGACACTTTC TCTGCCTTCC TTTTCCTGGA AAATGACCAT TTTGCTTCCC : 51130678 51130677 : CTCCAGGTGC GGTTCCTAGA GCAGCAGAAC AAGGTTCTGG ACACCAAGTG : 51130628 541 : GTGC GGTTCCTAGA GCAGCAGAAC AAGGTTCTGG ACACCAAGTG : 584 181 : V R F L E Q Q N K V L D T K W : 195 51130627 : GACCCTGCTG CAGGAGCAGG GCACCAAGAC TGTGAGGCAG AACCTGGAGC : 51130578 585 : GACCCTGCTG CAGGAGCAGG GCACCAAGAC TGTGAGGCAG AACCTGGAGC : 634 196 : T L L Q E Q G T K T V R Q N L E : 211 51130577 : CGTTGTTCGA GCAGTACATC AACAACCTCA GGAGGCAGCT GGACAACATC : 51130528 635 : CGTTGTTCGA GCAGTACATC AACAACCTCA GGAGGCAGCT GGACAACATC : 684 212 : P L F E Q Y I N N L R R Q L D N I : 228 51130527 : GTGGGGGAAC GGGGTCGTCT GGACTCGGAG CTGAGAAACA TGCAGGACCT : 51130478 685 : GTGGGGGAAC GGGGTCGTCT GGACTCGGAG CTGAGAAACA TGCAGGACCT : 734 229 : V G E R G R L D S E L R N M Q D L : 245 51130477 : GGTGGAGGAC CTCAAGAACA AGTGAGGACT CCATTTCCTG CAGCACACAC : 51130428 735 : GGTGGAGGAC CTCAAGAACA A : 755 246 : V E D L K N K : 252 51130427 : TTCAAGACTA TTGGGTGACC AGGGCCAGAT GTGTGTAGGA TTCCTAACAA : 51130378 51130377 : CCCATGTCCA TGGAAATGAA AAGCACAAAT TAGTCCCTAG GAGCAAACCT : 51130328 51130327 : GCAAGAACCA CAGATGGTTA TGGGAGGATG GGGAGATTAA AGAAATGGCA : 51130278 51130277 : AATTTAGTAG TAGCAAAATT CATCTCTTTG GCTCTCTGTG GCAGGAAAGC : 51130228 51130227 : TCAATTAGAA TATATTCCAT TCAGGAAAAT GTTGAATCCC AAGCTGCTTT : 51130178 51130177 : TCTGTTTCAT CCTACCCACT GGCTCAAATG TGTCCCATGC CTTTCTTCCT : 51130128 51130127 : GTAGATATGA GGATGAAATC AACAAGCGCA CAGCAGCAGA GAATGAATTT : 51130078 756 : ATATGA GGATGAAATC AACAAGCGCA CAGCAGCAGA GAATGAATTT : 801 253 : Y E D E I N K R T A A E N E F : 267 51130077 : GTGACTCTGA AGAAGGTGAG CAGATGAAGC CAGGGGTTCA AATTCATTTA : 51130028 802 : GTGACTCTGA AGAAG : 816 268 : V T L K K : 272 51130027 : GAAGGAGAGA AGTGGCTCTG TGTCCTCGCT CCCCTGGGAG AGGAGAATTG : 51129978 51129977 : GCAGGAGGAC TAGAAGATGG GTAGATTGGA AAGGTGAGCT CAGGCAACTC : 51129928 51129927 : CAGGTTGTTG GCTCTTTCCC CAGGATGTGG ATGCTGCCTA CATGAACAAG : 51129878 817 : GATGTGG ATGCTGCCTA CATGAACAAG : 843 273 : D V D A A Y M N K : 281 51129877 : GTTGAACTGC AAGCCAAGGC AGACACTCTT ACAGATGAGA TCAACTTCCT : 51129828 844 : GTTGAACTGC AAGCCAAGGC AGACACTCTT ACAGATGAGA TCAACTTCCT : 893 282 : V E L Q A K A D T L T D E I N F L : 298 51129827 : GAGAGCCTTG TATGATGCAG TAAGCAACTC CACCATCCTT CTGTTTACTC : 51129778 894 : GAGAGCCTTG TATGATGCA : 912 299 : R A L Y D A : 304 51129777 : TGATGGGGTC TGCAAAGGGG AGAAGATGTA CAGGGCTGGG CATCTCTGTA : 51129728 51129727 : AATGTCAGAA GTGAAGTTGA TCTTATGACC TTCTGTTCTG CAGGAGCTGT : 51129678 913 : GAGCTGT : 919 305 : E L : 306 51129677 : CCCAGATGCA GACCCACATC TCAGACACAT CCGTGGTGCT ATCCATGGAC : 51129628 920 : CCCAGATGCA GACCCACATC TCAGACACAT CCGTGGTGCT ATCCATGGAC : 969 307 : S Q M Q T H I S D T S V V L S M D : 323 51129627 : AACAACCGCA ACCTGGACCT GGACAGCATC ATCGCTGAGG TCAAGGCCCA : 51129578 970 : AACAACCGCA ACCTGGACCT GGACAGCATC ATCGCTGAGG TCAAGGCCCA : 1019 324 : N N R N L D L D S I I A E V K A Q : 340 51129577 : ATATGAGGAG ATTGCTCAGA GGAGCAGGGC TGAGGCTGAG TCCTGGTACC : 51129528 1020 : ATATGAGGAG ATTGCTCAGA GGAGCAGGGC TGAGGCTGAG TCCTGGTACC : 1069 341 : Y E E I A Q R S R A E A E S W Y : 356 51129527 : AGACAAAGGT GAGCACGGAG TGGACAGCCG CTGAGGAATC CTTGTGTCCA : 51129478 1070 : AGACAAAG : 1077 357 : Q T K : 359 51129477 : TCCCTGAATA CCAGAGGACT GCAGACTTCA CTGGGGACAT CCCCTGACAG : 51129428 51129427 : GAAGCTGGGG TCCTCTCACA GGACATGCAC TCTGCACTAT TAGAGTAGAC : 51129378 51129377 : ATTTGCGGAA CTTATGCCCA AGTCAAGGAG GAAAAACAAC CCAATGCAGG : 51129328 51129327 : AGGCAAGCTA CGATAGACAA GGACATAGTC ATCTGTGCTT TTAGCTTCAC : 51129278 51129277 : CTTGGTTGCT GACTTTTAGA AATTGGTACA GAACATTTCT ACTCCCTAAG : 51129228 51129227 : AAAACTAGGC AGGCAGTGGT GCCATAATAA GGATGGTCTG TGACTCCAGT : 51129178 51129177 : GTTTAGTATC CACCCACCAC ATAACATCAA CTTTTCCTCA AGTTTCTTGG : 51129128 51129127 : GGAGAAGCCA TTAGGTCCAC TTCATGACAT TCATGATACA CAAGTGAAAG : 51129078 51129077 : TCATCGCTCC CAGGTAAGAA CCCGTAGACA CTGTCTCTCT CTCCACCTCT : 51129028 51129027 : GGGCTGCAGT ACGAGGAGCT GCAGATCACA GCAGGCAGAC ATGGGGACGA : 51128978 1078 : T ACGAGGAGCT GCAGATCACA GCAGGCAGAC ATGGGGACGA : 1118 360 : Y E E L Q I T A G R H G D D : 373 51128977 : CCTGCGCAAC ACCAAGCAGG AGATTGCTGA GATCAACCGC ATGATCCAGA : 51128928 1119 : CCTGCGCAAC ACCAAGCAGG AGATTGCTGA GATCAACCGC ATGATCCAGA : 1168 374 : L R N T K Q E I A E I N R M I Q : 389 51128927 : GGCTGAGATC TGAGATCGAC CACGTCAAGA AGCAGGTATG GTGAGGGGCA : 51128878 1169 : GGCTGAGATC TGAGATCGAC CACGTCAAGA AGCAG : 1203 390 : R L R S E I D H V K K Q : 401 51128877 : ATGGAGGAGA AAAGCATCAT TTTTTTTATT AGGTCATGAG GCAGTAGTCA : 51128828 51128827 : CCCATCATTT AGTAAAATTC TTTGGGAATT GATTGATAAG CAGAGAAGGA : 51128778 51128777 : AAGACATGCA GTTCCTAGGC TCAGTGAGAA CACTCTGGCT CAGAGACATG : 51128728 51128727 : GATCACACCC AAGGATATGA AACAATCACC TGGGCAGAAG CACTCTCAGC : 51128678 51128677 : TGGTCAAAGC TGTAAAAGTA TAGTCTAGAG GCATTGGAAG GGCTTATGTA : 51128628 51128627 : AGAAGACTGA TTGACTTTGG AATTGCAAAG GACCAAGTTG GGCAAGATGT : 51128578 51128577 : CAGGTCAGAA AGCATCAGTA ACATTGCTGC AAATCTGCTC AAGGTTCACG : 51128528 51128527 : GTGAAAAAGC AAGTGAAACC AGGGCTATGA GGAAGGAAAA CGTGGCCCAA : 51128478 51128477 : GCAGGTGAGA GGATGTGAGG CAGGAGGAAG GCAAGGTCAC AACAGCCTCA : 51128428 51128427 : TGTGAAAACT CATCACCTCA GTTGACAACG TTTGCAAATT ATTGTGGCAT : 51128378 51128377 : CCATGTAAGG TCATCAAAAA TGGTTTTGGT TTTTTTGCTT TGGAGCCAAC : 51128328 51128327 : ACTTAATGTC CTTGGTCTTG TGTCCACTGT GGCATCTTCC ATTGGTCATC : 51128278 51128277 : ACCCACATCT TTAGGCAGTG GAGTTAACAG AAAGGGCACA GGATTTTATC : 51128228 51128227 : ATGTGACTCC AGACGTAAAA ACTTTGAAGA CAGTAAAAAG GCTAGACAGG : 51128178 51128177 : AAGAGTCAGA GCTCATTTAC CATCAGTTCT GGGTTCCTGG TGCCTTCTTC : 51128128 51128127 : ACTGGAAAAG AACCAGCCAG GTTTATTCTT CTCTGGAAGA CCAGATGACA : 51128078 51128077 : AGTTCTTTCT CTTCCTTTGC CCTCCTAGTG TGCCAACCTA CAGGCCGCCA : 51128028 1204 : TG TGCCAACCTA CAGGCCGCCA : 1225 402 : C A N L Q A A : 408 51128027 : TTGCTGATGC TGAGCAGCGT GGGGAGATGG CCCTCAAGGA TGCTAAGAAC : 51127978 1226 : TTGCTGATGC TGAGCAGCGT GGGGAGATGG CCCTCAAGGA TGCTAAGAAC : 1275 409 : I A D A E Q R G E M A L K D A K N : 425 51127977 : AAGCTGGAAG GGCTGGAGGA TGCCCTGCAG AAGGCCAAGC AGGACCTGGC : 51127928 1276 : AAGCTGGAAG GGCTGGAGGA TGCCCTGCAG AAGGCCAAGC AGGACCTGGC : 1325 426 : K L E G L E D A L Q K A K Q D L A : 442 51127927 : CCGGCTGCTG AAGGAGTACC AGGAGCTGAT GAACGTCAAG CTGGCCCTGG : 51127878 1326 : CCGGCTGCTG AAGGAGTACC AGGAGCTGAT GAACGTCAAG CTGGCCCTGG : 1375 443 : R L L K E Y Q E L M N V K L A L : 458 VARIANTS : A : VARIANTS 51127877 : ATGTGGAGAT CGCCACCTAC CGCAAGCTGC TGGAGGGCGA GGAGTGCAGG : 51127828 1376 : ATGTGGAGAT CGCCACCTAC CGCAAGCTGC TGGAGGGCGA GGAGTGCAG : 1424 459 : D V E I A T Y R K L L E G E E C R : 475 VARIANTS : K : VARIANTS 51127827 : TGGGTAACTG ACGCGACTTC CTCCAACAGC TGAGTCCATC TTCAAGGTTC : 51127778 51127777 : TGGCACTGAG CACAACTTTA AGGTGCACTG CCCAAGGCCA TAATTGCTCT : 51127728 51127727 : TCTTGGGAGA AAACTAAAAG TTTTCCCATG GACTTTCCCA CCCACTGAGG : 51127678 51127677 : CTTCCCATGC TCGTCCAGGG AAGGTCTCAC CCTCCCTGTG TTCCTCTCCA : 51127628 51127627 : CAGGCTGAAT GGCGAAGGCG TTGGACAAGT CAACATCTGT AAGTACCTTT : 51127578 1425 : GCTGAAT GGCGAAGGCG TTGGACAAGT CAACATCT : 1459 476 : L N G E G V G Q V N I : 486 51127577 : GTTTGCCTTC CTCCCCTGCC CTTGCACTCT CCTGACTGGG CTCAGGCCGG : 51127528 51127527 : CAGGATGAAC TCATTGTGGC TTCTTGTGTC CTTGTCCCCT CCCCACCACA : 51127478 51127477 : GCTGTAGTGC AGTCCACCGT CTCCAGTGGC TATGGCGGTG CCAGCGGTGT : 51127428 1460 : CTGTAGTGC AGTCCACCGT CTCCAGTGGC TATGGCGGTG CCAGCGGTGT : 1508 487 : S V V Q S T V S S G Y G G A S G V : 503 51127427 : CGGCAGTGGC TTAGGCCTGG GTGGAGGAAG CAGCTACTCC TATGGCAGTG : 51127378 1509 : CGGCAGTGGC TTAGGCCTGG GTGGAGGAAG CAGCTACTCC TATGGCAGTG : 1558 504 : G S G L G L G G G S S Y S Y G S : 519 51127377 : GTCTTGGCGT TGGAGGCGGC TTTAGTTCCA GCAGCGGCAG AGCCACTGGG : 51127328 1559 : GTCTTGGCGT TGGAGGCGGC TTTAGTTCCA GCAGCGGCAG AGCCACTGGG : 1608 520 : G L G V G G G F S S S S G R A T G : 536 51127327 : GGTGGCCTCA GCTCTGTTGG AGGCGGCAGT TCCACCATCA AGTACACCAC : 51127278 1609 : GGTGGCCTCA GCTCTGTTGG AGGCGGCAGT TCCACCATCA AGTACACCAC : 1658 537 : G G L S S V G G G S S T I K Y T T : 553 51127277 : CACCTCCTCC TCCAGCAGGA AGAGCTACAA GCACTGAAGT GCTGCCGCCA : 51127228 1659 : CACCTCCTCC TCCAGCAGGA AGAGCTACAA GCACTGAAGT GCTGCCGCCA : *13 554 : T S S S S R K S Y K H : 564 51127227 : GCTCTCAGTC CCACAGCTCT CAGGCCCCTC TCTGGCAGCA GAGCCCTCTC : 51127178 *14 : GCTCTCAGTC CCACAGCTCT CAGGCCCCTC TCTGGCAGCA GAGCCCTCTC : *63 51127177 : CTCAGGTTGC TTGTCCTCCC CTGGCCTCCA GTCTCCCCTG CCCTCCCGGG : 51127128 *64 : CTCAGGTTGC TTGTCCTCCC CTGGCCTCCA GTCTCCCCTG CCCTCCCGGG : *113 51127127 : TAGAGCTGGG ATGCCCTCAC TTTTCTTCTC ATCAATACCT GTTCCACTGA : 51127078 *114 : TAGAGCTGGG ATGCCCTCAC TTTTCTTCTC ATCAATACCT GTTCCACTGA : *163 51127077 : GCTCCTGTTG CTTACCATCA AGTCAACAGT TATCAGCACT CAGACATGCG : 51127028 *164 : GCTCCTGTTG CTTACCATCA AGTCAACAGT TATCAGCACT CAGACATGCG : *213 51127027 : AATGTCCTTT TTAGTTCCCG TATTATTACA GGTATCTGAG TCTGCCATAA : 51126978 *214 : AATGTCCTTT TTAGTTCCCG TATTATTACA GGTATCTGAG TCTGCCATAA : *263 51126977 : TTCTGAGAAG AAAATGACCT ATATCCCCAT AAGAACTGAA ACTCAGTCTA : 51126928 *264 : TTCTGAGAAG AAAATGACCT ATATCCCCAT AAGAACTGAA ACTCAGTCTA : *313 51126927 : GGTCCAGCTG CAGATGAGGA GTCCTCTCTT TAATTGCTAA CCATCCTGCC : 51126878 *314 : GGTCCAGCTG CAGATGAGGA GTCCTCTCTT TAATTGCTAA CCATCCTGCC : *363 51126877 : CATTATAGCT ACACTCAGGA GTTCTCATCT GACAAGTCAG TTGTCCTGAT : 51126828 *364 : CATTATAGCT ACACTCAGGA GTTCTCATCT GACAAGTCAG TTGTCCTGAT : *413 51126827 : CTTCTCTTGC AGTGTCCCTG AATGGCAAGT GATGTACCTT CTGATGCAGT : 51126778 *414 : CTTCTCTTGC AGTGTCCCTG AATGGCAAGT GATGTACCTT CTGATGCAGT : *463 51126777 : CTGCATTCCT GCACTGCTTT CTCTGCTCTC TTTGCCTTCT TTTGTTCTGT : 51126728 *464 : CTGCATTCCT GCACTGCTTT CTCTGCTCTC TTTGCCTTCT TTTGTTCTGT : *513 51126727 : TGAATAAAGC ATATTGAGAA TGTGAA---- ---------- ---------- : 51126702 *514 : TGAATAAAGC ATATTGAGAA TGTGAAAAAA AAAAAAAAAA AAAAAAAAAA : *563 51126702 : ---------- ---------- ----- : 51126702 *564 : AAAAAAAAAA AAAAAAAAAA AAAAA : *588
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:06:14
RefSeq ID NM_005555.3
GI 119703752
Length 2331 nucleotides
Download File | Text
Sequence
Legend: Blue = CDS, Red = UTR
-48 CGCCTCCAGC CTCTCACACT CTCCTAAGCC CTCTCATCTC CTGGAACCAT 2 3 GGCCAGCACA TCCACCACCA TCAGGAGCCA CAGCAGCAGC CGCCGGGGTT 52 53 TCAGTGCCAA CTCAGCCAGG CTCCCTGGGG TCAGCCGCTC TGGCTTCAGC 102 103 AGCATCTCCG TGTCCCGCTC CAGGGGCAGT GGTGGCCTGG GTGGCGCATG 152 153 TGGAGGAGCT GGCTTTGGCA GCCGCAGTCT GTATGGCCTG GGGGGCTCCA 202 203 AGAGGATCTC CATTGGAGGG GGCAGCTGTG CCATCAGTGG CGGCTATGGC 252 253 AGCAGAGCCG GAGGCAGCTA TGGCTTTGGT GGCGCCGGGA GTGGATTTGG 302 303 TTTCGGTGGT GGAGCCGGCA TTGGCTTTGG TCTGGGTGGT GGAGCCGGCC 352 353 TTGCTGGTGG CTTTGGGGGC CCTGGCTTCC CTGTGTGCCC CCCTGGAGGC 402 403 ATCCAAGAGG TCACTGTCAA CCAGAGTCTC CTGACTCCCC TCAACCTGCA 452 453 AATTGACCCC GCCATCCAGC GGGTGCGGGC CGAGGAGCGT GAGCAGATCA 502 503 AGACCCTCAA CAACAAGTTT GCCTCCTTCA TCGACAAGGT GCGGTTCCTA 552 553 GAGCAGCAGA ACAAGGTTCT GGACACCAAG TGGACCCTGC TGCAGGAGCA 602 603 GGGCACCAAG ACTGTGAGGC AGAACCTGGA GCCGTTGTTC GAGCAGTACA 652 653 TCAACAACCT CAGGAGGCAG CTGGACAACA TCGTGGGGGA ACGGGGTCGT 702 703 CTGGACTCGG AGCTGAGAAA CATGCAGGAC CTGGTGGAGG ACCTCAAGAA 752 753 CAAATATGAG GATGAAATCA ACAAGCGCAC AGCAGCAGAG AATGAATTTG 802 803 TGACTCTGAA GAAGGATGTG GATGCTGCCT ACATGAACAA GGTTGAACTG 852 853 CAAGCCAAGG CAGACACTCT TACAGATGAG ATCAACTTCC TGAGAGCCTT 902 903 GTATGATGCA GAGCTGTCCC AGATGCAGAC CCACATCTCA GACACATCCG 952 953 TGGTGCTATC CATGGACAAC AACCGCAACC TGGACCTGGA CAGCATCATC 1002 1003 GCTGAGGTCA AGGCCCAATA TGAGGAGATT GCTCAGAGGA GCAGGGCTGA 1052 1053 GGCTGAGTCC TGGTACCAGA CAAAGTACGA GGAGCTGCAG ATCACAGCAG 1102 1103 GCAGACATGG GGACGACCTG CGCAACACCA AGCAGGAGAT TGCTGAGATC 1152 1153 AACCGCATGA TCCAGAGGCT GAGATCTGAG ATCGACCACG TCAAGAAGCA 1202 1203 GTGTGCCAAC CTACAGGCCG CCATTGCTGA TGCTGAGCAG CGTGGGGAGA 1252 1253 TGGCCCTCAA GGATGCTAAG AACAAGCTGG AAGGGCTGGA GGATGCCCTG 1302 1303 CAGAAGGCCA AGCAGGACCT GGCCCGGCTG CTGAAGGAGT ACCAGGAGCT 1352 1353 GATGAACGTC AAGCTGGCCC TGGATGTGGA GATCGCCACC TACCGCAAGC 1402 1403 TGCTGGAGGG CGAGGAGTGC AGGCTGAATG GCGAAGGCGT TGGACAAGTC 1452 1453 AACATCTCTG TAGTGCAGTC CACCGTCTCC AGTGGCTATG GCGGTGCCAG 1502 1503 CGGTGTCGGC AGTGGCTTAG GCCTGGGTGG AGGAAGCAGC TACTCCTATG 1552 1553 GCAGTGGTCT TGGCGTTGGA GGCGGCTTTA GTTCCAGCAG CGGCAGAGCC 1602 1603 ACTGGGGGTG GCCTCAGCTC TGTTGGAGGC GGCAGTTCCA CCATCAAGTA 1652 1653 CACCACCACC TCCTCCTCCA GCAGGAAGAG CTACAAGCAC TGAAGTGCTG *7 *8 CCGCCAGCTC TCAGTCCCAC AGCTCTCAGG CCCCTCTCTG GCAGCAGAGC *57 *58 CCTCTCCTCA GGTTGCTTGT CCTCCCCTGG CCTCCAGTCT CCCCTGCCCT *107 *108 CCCGGGTAGA GCTGGGATGC CCTCACTTTT CTTCTCATCA ATACCTGTTC *157 *158 CACTGAGCTC CTGTTGCTTA CCATCAAGTC AACAGTTATC AGCACTCAGA *207 *208 CATGCGAATG TCCTTTTTAG TTCCCGTATT ATTACAGGTA TCTGAGTCTG *257 *258 CCATAATTCT GAGAAGAAAA TGACCTATAT CCCCATAAGA ACTGAAACTC *307 *308 AGTCTAGGTC CAGCTGCAGA TGAGGAGTCC TCTCTTTAAT TGCTAACCAT *357 *358 CCTGCCCATT ATAGCTACAC TCAGGAGTTC TCATCTGACA AGTCAGTTGT *407 *408 CCTGATCTTC TCTTGCAGTG TCCCTGAATG GCAAGTGATG TACCTTCTGA *457 *458 TGCAGTCTGC ATTCCTGCAC TGCTTTCTCT GCTCTCTTTG CCTTCTTTTG *507 *508 TTCTGTTGAA TAAAGCATAT TGAGAATGTG AAAAAAAAAA AAAAAAAAAA *557 *558 AAAAAAAAAA AAAAAAAAAA AAAAAAAAAA A
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:06:14
RefSeq ID NP_005546.2
GI 119703753
Isoelectric Point 8.1636
Molecular Weight 59998.7 Daltons
Length 564 amino acids
Download File | Text
Sequence
1 MASTSTTIRS HSSSRRGFSA NSARLPGVSR SGFSSISVSR SRGSGGLGGA 50 51 CGGAGFGSRS LYGLGGSKRI SIGGGSCAIS GGYGSRAGGS YGFGGAGSGF 100 101 GFGGGAGIGF GLGGGAGLAG GFGGPGFPVC PPGGIQEVTV NQSLLTPLNL 150 151 QIDPAIQRVR AEEREQIKTL NNKFASFIDK VRFLEQQNKV LDTKWTLLQE 200 201 QGTKTVRQNL EPLFEQYINN LRRQLDNIVG ERGRLDSELR NMQDLVEDLK 250 251 NKYEDEINKR TAAENEFVTL KKDVDAAYMN KVELQAKADT LTDEINFLRA 300 301 LYDAELSQMQ THISDTSVVL SMDNNRNLDL DSIIAEVKAQ YEEIAQRSRA 350 351 EAESWYQTKY EELQITAGRH GDDLRNTKQE IAEINRMIQR LRSEIDHVKK 400 401 QCANLQAAIA DAEQRGEMAL KDAKNKLEGL EDALQKAKQD LARLLKEYQE 450 451 LMNVKLALDV EIATYRKLLE GEECRLNGEG VGQVNISVVQ STVSSGYGGA 500 501 SGVGSGLGLG GGSSYSYGSG LGVGGGFSSS SGRATGGGLS SVGGGSSTIK 550 551 YTTTSSSSRK SYKH
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 163
1A 164 198
L1 199 210
1B 211 311
L12 312 328
2A 329 347
L2 348 355
2B 356 476
Tail 477 564
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MONOCLONAL ANTIBODIES
Information last updated on 2008-08-26 15:29:10
Clone Name Species Reported Specificity Epitope Reference
2.1.D7 rat K5, K6a, K6b, K6c, K8 - Purkis et al, 1990
693-1 rabbit K6a, K6b, K6c - Reichelt et al, 1997
C-10 mouse K6a, K6b, K6c, K8 - Upasani et al, 2004, Kovarík et al, 1988, Macák and Unger, 1991
D5/16 B4 mouse K5, K6a, K6b, K6c - Turashvili et al, 2007, Clover et al, 1997
LHK6 mouse K6a, K6b, K6c - Machesney et al, 1998
LHK6B mouse K6b - Mommers et al, 2000
LL020 mouse K6a, K6b, K6c - Broekaert et al, 1993
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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 88723.
Information last updated on 2007-08-17 12:27:41
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Pan troglodytes 738608 XM_001143340.1 XP_001143340.1 Primates
Vertebrate ClustalW multiple sequence alignments
Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences.
Type of ClustalW alignment Download in FASTA format View file in FASTA format
Nucleotide file view
Protein file view

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ASSOCIATED DISEASES
Information last updated on 2007-04-25 10:03:06
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Pachyonychia congenita type 2 PC-2 #167210
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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 2007-04-25 10:03:06

* 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
11765 c.516_518delCAA Deletion p.Asn172del Deletion 1A PC-2 Sharma and Stein, 2007
9637 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-2 Smith et al, 1998
9290 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-2 Smith et al, 2005
11518 c.1414G>A Substitution p.Glu472Lys Substitution 2B PC-2 Smith et al, 2005
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