Intermediate Filament Details

INTEGRATED SEQUENCE VIEW

Information last updated on 2009-07-21 17:12:23 * 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 51360458 : AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC : 51360409 -59 : AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC : -10 51360408 : TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG : 51360359 -9 : TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG : 41 1 : M S R Q F S S R S G Y R S G : 14 51360358 : AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA : 51360309 42 : AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA : 91 15 : G G F S S G S A G I I N Y Q R R : 30 51360308 : CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA : 51360259 92 : CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA : 141 31 : T T S S S T R R S G G G G G R F S : 47 51360258 : AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG : 51360209 142 : AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG : 191 48 : S C G G G G G S F G A G G G F G S : 64 VARIANTS : T : VARIANTS 51360208 : TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG : 51360159 192 : TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG : 241 65 : R S L V N L G G S K S I S I S V : 80 VARIANTS : I : VARIANTS 51360158 : CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT : 51360109 242 : CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT : 291 81 : A R G G G R G S G F G G G Y G G G : 97 51360108 : GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT : 51360059 292 : GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT : 341 98 : G F G G G G F G G G G F G G G G I : 114 51360058 : TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG : 51360009 342 : TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG : 391 115 : G G G G F G G F G S G G G G F G : 130 51360008 : GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC : 51359959 392 : GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC : 441 131 : G G G F G G G G Y G G G Y G P V C : 147 VARIANTS : G : VARIANTS VARIANTS : A C : VARIANTS 51359958 : CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC : 51359909 442 : CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC : 491 148 : P P G G I Q E V T I N Q S L L Q P : 164 VARIANTS : D P : VARIANTS VARIANTS : G : VARIANTS VARIANTS : dddd dddddddd T C : VARIANTS 51359908 : CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA : 51359859 492 : CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA : 541 165 : L N V E I D P E I Q K V K S R E : 180 VARIANTS : ddd ddddddd N P : VARIANTS VARIANTS : ddddd dddddddddd : VARIANTS VARIANTS : ddddd dddddddddd : VARIANTS VARIANTS : C : VARIANTS VARIANTS : C T GA A GG C : VARIANTS 51359858 : GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG : 51359809 542 : GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG : 591 181 : R E Q I K S L N N Q F A S F I D K : 197 VARIANTS : P F S I P : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd ddddddddd : VARIANTS VARIANTS : dddddddddd dddddddddd dddddddddd dddddddddd ddddddddd : VARIANTS VARIANTS : T C : VARIANTS VARIANTS : K L : VARIANTS VARIANTS : C : VARIANTS VARIANTS : AAdddd : VARIANTS 51359808 : GTGAGTTTCT CTCTCATTGC ACTGGTAGGG CTGCCGCTGG TCCACTTGGG : 51359759 51359758 : ATTGGTGCAG TCAAAACACA GTAGGTTTGA ACCTCAAGTT TCCATGTTTA : 51359709 51359708 : CATGATTAAA AGGATGTTTT GTGGAATGGT CTCCTAGGAG ATATGTTAGA : 51359659 51359658 : TGTATGCTTG TGAATGGTGT TAATGACTCT CTCTTTGACA AAGGGTTCGT : 51359609 51359608 : GGTCGACCTA AAGGTGGGTC AGTGTGACAT TAACATTTAA GTGCTTTTTA : 51359559 51359558 : TTCAGCTCTT GAGCGGAATT GGGACTCATA TCTGTTGAAT GAAGATAATA : 51359509 51359508 : GAAATGGGGC TAACTGAACT TTCCAGGGTG CAAGTGAGAA CCCTGGAAAG : 51359459 51359458 : GTCTTCCTAA CCATAGAAAG GGAGTTGAGT GTGAACATAG TATAGAGTGT : 51359409 51359408 : TATTGTAGCA GAAAACATGT GGTCAGTCAG TGCCAAACAT CTTTTGCTGT : 51359359 51359358 : CAGAGGGGAG CTCTGCCTTC TAATAATTTT ACATTGGTAC TGGATGAGGC : 51359309 51359308 : TAGAGTTTTT TTATACTAAT ATCTCCAAAA ATCAGCTCTA AAAAACTCAG : 51359259 51359258 : ATAAACCATT TTTTTAATTT TTTGCTTAAT CATTAATAGT GCCAATCCAA : 51359209 51359208 : GGTTATCCAC AACAAATTTC AAATCCAATT TTGAATTTTC CTGATATACT : 51359159 51359158 : TTTGAAATGT GTGTGTGTCC TGGGGATGCA AACCAGTTTT TATGGTAATA : 51359109 51359108 : TACCTAACAA AATTTTGGAA GGCAAATCTC TTAAATACCA TGCACCTATT : 51359059 51359058 : TCAAAACATA ATTGCAATAA TTCTGTATGC GCTTTGCTAT TGGTATTTGT : 51359009 51359008 : TTAGTTACTC CCTTCCAAGC CCTCTCTGAA TTAACAAGTT GGGTTTTATT : 51358959 51358958 : ATGCAGATGA TATTAACTTG ATCATCTTCT TCCTATTTCT CTGTCATGGT : 51358909 51358908 : CAGAAGATAG GAATTGAGGT TCTTTTCCAA ATGAGGCACA GTTCTCCATG : 51358859 51358858 : GCTATGAGAC TCCATTTATG CATCAGGAGT AAAGGGGTCT TGTGTTTTTA : 51358809 VARIANTS : C : VARIANTS 51358808 : GGTGAGGTTC CTGGAGCAGC AGAACCAGGT ACTGCAAACA AAATGGGAGC : 51358759 592 : GTGAGGTTC CTGGAGCAGC AGAACCAGGT ACTGCAAACA AAATGGGAGC : 640 198 : V R F L E Q Q N Q V L Q T K W E : 213 VARIANTS : P : VARIANTS VARIANTS : C : VARIANTS 51358758 : TGCTGCAGCA GGTAGATACC TCCACTAGAA CCCATAATTT AGAGCCCTAC : 51358709 641 : TGCTGCAGCA GGTAGATACC TCCACTAGAA CCCATAATTT AGAGCCCTAC : 690 214 : L L Q Q V D T S T R T H N L E P Y : 230 VARIANTS : P : VARIANTS VARIANTS : T A : VARIANTS 51358708 : TTTGAGTCAT TCATCAACAA TCTCCGAAGG AGAGTGGACC AACTGAAGAG : 51358659 691 : TTTGAGTCAT TCATCAACAA TCTCCGAAGG AGAGTGGACC AACTGAAGAG : 740 231 : F E S F I N N L R R R V D Q L K S : 247 VARIANTS : L : VARIANTS 51358658 : TGATCAATCT CGGTTGGATT CGGAACTGAA GAACATGCAG GACATGGTGG : 51358609 741 : TGATCAATCT CGGTTGGATT CGGAACTGAA GAACATGCAG GACATGGTGG : 790 248 : D Q S R L D S E L K N M Q D M V : 263 VARIANTS : A : VARIANTS 51358608 : AGGATTACCG GAACAAGTAA GGGACCCTGT CTGGGCAGTT CTTAACTTTT : 51358559 791 : AGGATTACCG GAACAA : 806 264 : E D Y R N K : 269 VARIANTS : Q : VARIANTS 51358558 : GCTGTAAAAG AGTTCCAGAA AGTAATAAGC TAAGATCATG AAGCAGCATG : 51358509 51358508 : TAGCTATGTC TTTTCTTAGG TTAGAGGCAC ATCAGTTTGA CATTTTCAGA : 51358459 51358458 : AATCTTCATT TTCTCAGGAG ATGGAAATAG TCTAGTGGTT TTATTGCTCA : 51358409 51358408 : GTAGAAAGTA GTGGCCAATA TGTCCTAGGT TCATAATAGA AAGGCAGTGA : 51358359 51358358 : TAGGCAATGC CACCTTTAGT TTAGAATGCT GGACTTCAGG TCTTACCACC : 51358309 51358308 : TCTGAATCTC CTAATTGTTT CTGCTTTCCT GCAGGTATGA GGATGAAATC : 51358259 807 : GTATGA GGATGAAATC : 822 270 : Y E D E I : 274 51358258 : AACAAGCGGA CAAATGCAGA GAATGAATTT GTGACCATCA AGAAGGTAAG : 51358209 823 : AACAAGCGGA CAAATGCAGA GAATGAATTT GTGACCATCA AGAAG : 867 275 : N K R T N A E N E F V T I K K : 289 51358208 : CAAATTCTGT AGGACGGAAC TCACATTTGA AATAAATAAG GGAAGAGGGT : 51358159 51358158 : CTCCAATTAC TAAGCAGAAA GCAGCCATGA TATGGAGAGC CAGGTAGTAG : 51358109 51358108 : ACCTGGGGAG TATATGGAGT GGGGCTATAT TTTCACATCA TCATGGACCT : 51358059 51358058 : GGACTGATCC AGGCACTTGG CTTCTCCATA TTTCCCAGCA CCTTACATAG : 51358009 51358008 : TAAGTGGAGT GGCAGATTCT CAGCAAGCCA GGCACACTCC CTTGATGGTG : 51357959 51357958 : CTATCCGGGG GTGGGACAGT TAGGGAACTG TGATTTACCT GGGGCAAAAA : 51357909 51357908 : GGAGTGGAGT AGACCCAAAG CTCCTTTTTT TGCTTGGAGA ATCCCCTCAC : 51357859 51357858 : AGGTAATGAG AGGGACCTGC CCTGGAGAGA ATGTGCCTTC ATGATGTCCC : 51357809 51357808 : TTGTTCCTCT AGGATGTGGA TGGTGCTTAT ATGACCAAGG TGGACCTTCA : 51357759 868 : GATGTGGA TGGTGCTTAT ATGACCAAGG TGGACCTTCA : 905 290 : D V D G A Y M T K V D L Q : 302 51357758 : GGCCAAACTT GACAACTTGC AGCAGGAAAT TGATTTCCTT ACAGCACTCT : 51357709 906 : GGCCAAACTT GACAACTTGC AGCAGGAAAT TGATTTCCTT ACAGCACTCT : 955 303 : A K L D N L Q Q E I D F L T A L : 318 51357708 : ACCAAGCAGT AAGTCTTCCA GTTTCAACCA AGTTTATCTA AATGGAGAGT : 51357659 956 : ACCAAGCA : 963 319 : Y Q A : 321 51357658 : TTTTAAGCCT GAACCCACAA CGATTCAGAA GAATAGATAT TTATCTTTTA : 51357609 51357608 : TTTTCTGACT GCTTTCTCTG TCTAAGTTGT TTTTTGTTTT AGTGCTGTAA : 51357559 51357558 : GAGTCACTAA CCTATTATGT CTTGCAGGAG TTGTCTCAGA TGCAGACTCA : 51357509 964 : GAG TTGTCTCAGA TGCAGACTCA : 986 322 : E L S Q M Q T Q : 329 VARIANTS : T : VARIANTS 51357508 : AATCAGTGAA ACTAATGTCA TCCTCTCTAT GGACAACAAC CGCAGTCTCG : 51357459 987 : AATCAGTGAA ACTAATGTCA TCCTCTCTAT GGACAACAAC CGCAGTCTCG : 1036 330 : I S E T N V I L S M D N N R S L : 345 VARIANTS : V : VARIANTS 51357458 : ACCTGGACAG CATCATTGCT GAGGTCAAGG CCCAGTACGA GGATATAGCC : 51357409 1037 : ACCTGGACAG CATCATTGCT GAGGTCAAGG CCCAGTACGA GGATATAGCC : 1086 346 : D L D S I I A E V K A Q Y E D I A : 362 51357408 : CAGAAGAGCA AAGCTGAGGC CGAGTCCTTG TACCAGAGCA AGGTGAGTGG : 51357359 1087 : CAGAAGAGCA AAGCTGAGGC CGAGTCCTTG TACCAGAGCA AG : 1128 363 : Q K S K A E A E S L Y Q S K : 376 51357358 : GCTGAAAGCC TAGCCAGTTT CCCTGAAATG GCTTGTCTTG CTATCCTGTG : 51357309 51357308 : TTATCTCATG TATGTGTGCC TGTGCCATGC TGAGTTCTGC CTACATTTAA : 51357259 51357258 : CAAACGCTAT CTACCATCTT TAGTATGAAG AGCTGCAGAT CACTGCTGGC : 51357209 1129 : TATGAAG AGCTGCAGAT CACTGCTGGC : 1155 377 : Y E E L Q I T A G : 385 51357208 : AGACATGGGG ATAGTGTGAG AAATTCAAAG ATAGAAATTT CTGAGCTGAA : 51357159 1156 : AGACATGGGG ATAGTGTGAG AAATTCAAAG ATAGAAATTT CTGAGCTGAA : 1205 386 : R H G D S V R N S K I E I S E L N : 402 VARIANTS : A : VARIANTS 51357158 : TCGTGTGATC CAGAGACTTA GATCTGAAAT CGACAATGTC AAGAAGCAGG : 51357109 1206 : TCGTGTGATC CAGAGACTTA GATCTGAAAT CGACAATGTC AAGAAGCAG : 1254 403 : R V I Q R L R S E I D N V K K Q : 418 VARIANTS : iii : VARIANTS 51357108 : TATGTGCTTT CTCCTTCTAC CACTCAGCTG TATGGAATGG GGGTAACCCT : 51357059 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51357058 : CAGGTAAAGG GCGAGTGCTT TCCTAGTTTT GAATCTTGCA ATTCATCCCA : 51357009 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51357008 : AGGCTACATT ATTATCCCTG GTTCCTTTTG TGACTATGCT AGTTTCCAGA : 51356959 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356958 : ATGCAGCCAT CATGCTGGGT TCTCTTTAGG GAAATCTGTG AGAATGGCCT : 51356909 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356908 : AGTAGAGAAA GATGGGATGG TCAATGTGAG TGATCTAGCC TATGACCCAA : 51356859 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356858 : AGTGGACTTA AGAGTTGGGG AGTGAGAGGA AGGGCAGCCA GGAGGTTTTA : 51356809 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356808 : GAGTAGGTGT TTAGAAGAAT GTCAAGTCTG TAAGGGTTGT AGGAGCCTTG : 51356759 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356758 : ACTCAGGGCC AAGAGAGGCT GTTGAGTTAT CCCTAAGGTC TTTTAAGGAA : 51356709 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356708 : GTCAACATGG TGATGTGTTA TCTGGAGGTG GGTGTGAGAT GACTTAAGGC : 51356659 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356658 : CAAGTGGTTC TGTTGGACTC ATTATTGGCC TCACTGGAGT GGGGAGACCA : 51356609 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356608 : ATTGGGATGA GGAGGCCTAG TGGGGAATGC ATATTATGAG AGGGTGTCAT : 51356559 VARIANTS : iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii iiiiiiiiii : VARIANTS 51356558 : ATTCTTTTTC AGATCTCCAA CTTGCAGCAG TCCATCAGTG ATGCAGAGCA : 51356509 1255 : ATCTCCAA CTTGCAGCAG TCCATCAGTG ATGCAGAGCA : 1292 419 : I S N L Q Q S I S D A E Q : 431 VARIANTS : iiiiiiiiii iiii : VARIANTS 51356508 : GCGTGGCGAG AATGCCCTCA AGGATGCCAA GAACAAGCTG AATGACCTGG : 51356459 1293 : GCGTGGCGAG AATGCCCTCA AGGATGCCAA GAACAAGCTG AATGACCTGG : 1342 432 : R G E N A L K D A K N K L N D L : 447 VARIANTS : T : VARIANTS VARIANTS : ddddddd dddddddddd : VARIANTS 51356458 : AGGATGCCCT GCAGCAGGCC AAGGAAGACC TGGCCCGCCT GCTGCGCGAC : 51356409 1343 : AGGATGCCCT GCAGCAGGCC AAGGAAGACC TGGCCCGCCT GCTGCGCGAC : 1392 448 : E D A L Q Q A K E D L A R L L R D : 464 VARIANTS : ddddddd dddddddddd : VARIANTS VARIANTS : ddddddd A A TTC C : VARIANTS 51356408 : TACCAGGAGC TGATGAACAC AAAGCTGGCC CTGGATCTGG AGATTGCCAC : 51356359 1393 : TACCAGGAGC TGATGAACAC CAAGCTGGCC CTGGATCTGG AGATTGCCAC : 1442 465 : Y Q E L M N T K L A L D L E I A T : 481 VARIANTS : ddddd D T P : VARIANTS VARIANTS : K F : VARIANTS VARIANTS : G C A CG : VARIANTS 51356358 : CTACAGGACC CTCCTGGAGG GAGAAGAAAG CAGGTGAGGA AGGGACGCTG : 51356309 1443 : CTACAGGACC CTCCTGGAGG GAGAAGAAAG CAG : 1475 482 : Y R T L L E G E E S R : 492 VARIANTS : C P K Q : VARIANTS VARIANTS : G : VARIANTS 51356308 : GGAGTCGAAC CTCTTCTCAT GGTCTTCCTT CCTTGCAAGC TGATTGTTGT : 51356259 51356258 : TGAAGATGCA GCCATCTGAT TGCAGCTTGT GCTGGGTATG GGGAAATGAA : 51356209 51356208 : AAGTACACGG AGCAGGAGGA AGGACCTAGT TTTACTTTGG GAGCTGGAGT : 51356159 51356158 : CCCAAGCTGT TTATTTTTTT CTTCTAGGGC TGTAACATAT CTAGAAAGAG : 51356109 51356108 : CTTTGAGGTG GAGCAAATTA TTCTTTATCT GGGCTGCCTC AGATGGCAGC : 51356059 51356058 : TGGCCTAAAG TCGGCATCTT TAGAGGGGGC CTTCATTGGC TGCAAGGCTC : 51356009 51356008 : TTGTCTCGTT TATATGGGAA TTTCTCCGTG TTTGTACTCT TGCTGAGAAA : 51355959 51355958 : AAATGACAGG TCTGGGAGGC CAGAGGGGAT TGGATTAAGT TTCAGATTAA : 51355909 51355908 : GTGCATTGGA GAAGACCCAG ATGGGGAAAG TCTTCAAGGT GGTGGAGCGG : 51355859 51355858 : GGAATGGGGA AGCGGTTTGG GAAGCTGGAG TGTCCTGAGG AATTTTCTTA : 51355809 51355808 : TTTTCTCCTA CAGGATGTCT GGAGAATGTG CCCCGAACGT GAGTGTGTGT : 51355759 1476 : GATGTCT GGAGAATGTG CCCCGAACGT GAGTGTGT : 1510 493 : M S G E C A P N V S V : 503 51355758 : AAGTACAAGT CGATTTCTCA GGGGCATGTG CAGGCTTTGT TGGGCTGGAA : 51355709 51355708 : ACGGAGTTGA GGTTGAAAAT AACTGAGCTT CCTCTTGCAG CTGTGAGCAC : 51355659 1511 : CTGTGAGCAC : 1520 504 : S V S T : 507 VARIANTS : d d : VARIANTS 51355658 : AAGCCACACC ACCATCAGTG GAGGTGGCAG CCGAGGAGGT GGCGGCGGTG : 51355609 1521 : AAGCCACACC ACCATCAGTG GAGGTGGCAG CCGAGGAGGT GGCGGCGGTG : 1570 508 : S H T T I S G G G S R G G G G G : 523 VARIANTS : f : VARIANTS VARIANTS : dddddddddd dddddddddd dddddd dd : VARIANTS 51355608 : GCTACGGCTC TGGAGGTAGC AGCTATGGCT CCGGAGGTGG TAGCTATGGT : 51355559 1571 : GCTACGGCTC TGGAGGTAGC AGCTATGGCT CCGGAGGTGG TAGCTATGGT : 1620 524 : G Y G S G G S S Y G S G G G S Y G : 540 VARIANTS : dddddddddd dddddddddd ddddd f : VARIANTS VARIANTS : d dddd dddddddddd : VARIANTS 51355558 : TCTGGAGGTG GCGGCGGCGG CGGCCGTGGC AGCTATGGCT CCGGAGGTAG : 51355509 1621 : TCTGGAGGTG GCGGCGGCGG CGGCCGTGGC AGCTATGGCT CCGGAGGTAG : 1670 541 : S G G G G G G G R G S Y G S G G S : 557 VARIANTS : f ddd dddddddddd : VARIANTS VARIANTS : ddddddd : VARIANTS 51355508 : CAGCTACGGC TCCGGAGGTG GCAGCTATGG CTCTGGAGGT GGCGGCGGCG : 51355459 1671 : CAGCTACGGC TCCGGAGGTG GCAGCTATGG CTCTGGAGGT GGCGGCGGCG : 1720 558 : S Y G S G G G S Y G S G G G G G : 573 VARIANTS : dddddd : VARIANTS VARIANTS : ii : VARIANTS 51355458 : GCCATGGCAG CTACGGCTCC GGAAGCAGCA GTGGGGGCTA CAGAGGTGGC : 51355409 1721 : GCCATGGCAG CTACGGCTCC GGAAGCAGCA GTGGGGGCTA CAGAGGTGGC : 1770 574 : G H G S Y G S G S S S G G Y R G G : 590 VARIANTS : f : VARIANTS 51355408 : TCTGGAGGCG GCGGCGGCGG CAGCTCTGGC GGCCGGGGCT CTGGCGGCGG : 51355359 1771 : TCTGGAGGCG GCGGCGGCGG CAGCTCTGGC GGCCGGGGCT CTGGCGGCGG : 1820 591 : S G G G G G G S S G G R G S G G G : 607 51355358 : GAGCTCTGGA GGCTCCATAG GAGGCCGGGG ATCCAGCTCT GGGGGTGTCA : 51355309 1821 : GAGCTCTGGA GGCTCCATAG GAGGCCGGGG ATCCAGCTCT GGGGGTGTCA : 1870 608 : S S G G S I G G R G S S S G G V : 623 51355308 : AGTCCTCTGG TGGCAGTTCC AGCGTGAAGT TTGTTTCTAC CACTTATTCC : 51355259 1871 : AGTCCTCTGG TGGCAGTTCC AGCGTGAAGT TTGTTTCTAC CACTTATTCC : 1920 624 : K S S G G S S S V K F V S T T Y S : 640 51355258 : GGAGTAACCA GATAAAGAGA TGCCCTCTGT TTCATTAGCT CTAGTTCTCC : 51355209 1921 : GGAGTAACCA GATAAAGAGA TGCCCTCTGT TTCATTAGCT CTAGTTCTCC : *35 641 : G V T R : 644 51355208 : CCCAGCATCA CTAACAAATA TGCTTGGCAA GACCGAGGTC GATTTGTCCC : 51355159 *36 : CCCAGCATCA CTAACAAATA TGCTTGGCAA GACCGAGGTC GATTTGTCCC : *85 51355158 : AGCCTTACCG GAGAAAAGAG CTATGGTTAG TTACACTAGC TCATCCTATT : 51355109 *86 : AGCCTTACCG GAGAAAAGAG CTATGGTTAG TTACACTAGC TCATCCTATT : *135 51355108 : CCCCCAGCTC TTTCTTTTCT GCTGTTTCCC AATGAAGTTT TCAGATCAGT : 51355059 *136 : CCCCCAGCTC TTTCTTTTCT GCTGTTTCCC AATGAAGTTT TCAGATCAGT : *185 51355058 : GGCAATCTCA GTCCCCTGGC TATGACCCTG CTTTGTTCTT TCCCTGAGAA : 51355009 *186 : GGCAATCTCA GTCCCCTGGC TATGACCCTG CTTTGTTCTT TCCCTGAGAA : *235 51355008 : ACAGTTCAGC AGTGACCACC ACCCACATGA CATTTCAAAG CACCTCCTTA : 51354959 *236 : ACAGTTCAGC AGTGACCACC ACCCACATGA CATTTCAAAG CACCTCCTTA : *285 51354958 : AGCCAGCCAG AGTAGGACCA GTTAGACCCA GGGTGTGGAC AGCTCCTTAG : 51354909 *286 : AGCCAGCCAG AGTAGGACCA GTTAGACCCA GGGTGTGGAC AGCTCCTTAG : *335 51354908 : CATCTTATCT CTGTGCTGTT TTGGTTTTGT ACATAAGGTG TAAGCAAGTT : 51354859 *336 : CATCTTATCT CTGTGCTGTT TTGGTTTTGT ACATAAGGTG TAAGCAAGTT : *385 51354858 : GTTTTTCTTT TGTGGAGAGG TCTTAAACTC CCCATTTCCT TGTTTTGCTG : 51354809 *386 : GTTTTTCTTT TGTGGAGAGG TCTTAAACTC CCCATTTCCT TGTTTTGCTG : *435 51354808 : CAATAAACTG CATTTGAAAT TC : 51354787 *436 : CAATAAACTG CATTTGAAAT TC : *457 Back to top

mRNA SEQUENCE

Reference sequence last updated on 2009-07-21 17:12:23 RefSeq ID NM_006121.3 GI 119395749 Length 2451 nucleotides Download File | Text Sequence Legend: Blue = CDS, Red = UTR -59 AGAGGAGTGT TTAGCTCCTT CCCTTACTCT ACCTTGCTCC TACTTTTCTC -10 -9 TAAGTCAACA TGAGTCGACA GTTTAGTTCC AGGTCTGGGT ACCGAAGTGG 41 42 AGGGGGCTTC AGCTCTGGCT CTGCTGGGAT CATCAACTAC CAGCGCAGGA 91 92 CCACCAGCAG CTCCACACGC CGCAGTGGAG GAGGTGGTGG GAGATTTTCA 141 142 AGCTGTGGTG GTGGTGGTGG TAGCTTTGGT GCTGGTGGTG GATTTGGAAG 191 192 TCGGAGTCTT GTTAACCTTG GTGGCAGTAA AAGCATCTCC ATAAGTGTGG 241 242 CTAGAGGAGG TGGACGTGGT AGTGGCTTTG GTGGTGGTTA TGGTGGTGGT 291 292 GGCTTTGGTG GTGGTGGCTT TGGTGGTGGT GGCTTTGGTG GAGGTGGCAT 341 342 TGGGGGTGGT GGCTTTGGTG GTTTTGGCAG TGGTGGTGGT GGTTTTGGTG 391 392 GAGGTGGCTT TGGGGGTGGT GGATATGGGG GTGGTTATGG TCCTGTCTGC 441 442 CCTCCTGGTG GCATACAAGA AGTCACTATC AACCAGAGCC TTCTTCAGCC 491 492 CCTCAATGTG GAGATTGACC CTGAGATCCA AAAGGTGAAG TCTCGAGAAA 541 542 GGGAGCAAAT CAAGTCACTC AACAACCAAT TTGCCTCCTT CATTGACAAG 591 592 GTGAGGTTCC TGGAGCAGCA GAACCAGGTA CTGCAAACAA AATGGGAGCT 641 642 GCTGCAGCAG GTAGATACCT CCACTAGAAC CCATAATTTA GAGCCCTACT 691 692 TTGAGTCATT CATCAACAAT CTCCGAAGGA GAGTGGACCA ACTGAAGAGT 741 742 GATCAATCTC GGTTGGATTC GGAACTGAAG AACATGCAGG ACATGGTGGA 791 792 GGATTACCGG AACAAGTATG AGGATGAAAT CAACAAGCGG ACAAATGCAG 841 842 AGAATGAATT TGTGACCATC AAGAAGGATG TGGATGGTGC TTATATGACC 891 892 AAGGTGGACC TTCAGGCCAA ACTTGACAAC TTGCAGCAGG AAATTGATTT 941 942 CCTTACAGCA CTCTACCAAG CAGAGTTGTC TCAGATGCAG ACTCAAATCA 991 992 GTGAAACTAA TGTCATCCTC TCTATGGACA ACAACCGCAG TCTCGACCTG 1041 1042 GACAGCATCA TTGCTGAGGT CAAGGCCCAG TACGAGGATA TAGCCCAGAA 1091 1092 GAGCAAAGCT GAGGCCGAGT CCTTGTACCA GAGCAAGTAT GAAGAGCTGC 1141 1142 AGATCACTGC TGGCAGACAT GGGGATAGTG TGAGAAATTC AAAGATAGAA 1191 1192 ATTTCTGAGC TGAATCGTGT GATCCAGAGA CTTAGATCTG AAATCGACAA 1241 1242 TGTCAAGAAG CAGATCTCCA ACTTGCAGCA GTCCATCAGT GATGCAGAGC 1291 1292 AGCGTGGCGA GAATGCCCTC AAGGATGCCA AGAACAAGCT GAATGACCTG 1341 1342 GAGGATGCCC TGCAGCAGGC CAAGGAAGAC CTGGCCCGCC TGCTGCGCGA 1391 1392 CTACCAGGAG CTGATGAACA CCAAGCTGGC CCTGGATCTG GAGATTGCCA 1441 1442 CCTACAGGAC CCTCCTGGAG GGAGAAGAAA GCAGGATGTC TGGAGAATGT 1491 1492 GCCCCGAACG TGAGTGTGTC TGTGAGCACA AGCCACACCA CCATCAGTGG 1541 1542 AGGTGGCAGC CGAGGAGGTG GCGGCGGTGG CTACGGCTCT GGAGGTAGCA 1591 1592 GCTATGGCTC CGGAGGTGGT AGCTATGGTT CTGGAGGTGG CGGCGGCGGC 1641 1642 GGCCGTGGCA GCTATGGCTC CGGAGGTAGC AGCTACGGCT CCGGAGGTGG 1691 1692 CAGCTATGGC TCTGGAGGTG GCGGCGGCGG CCATGGCAGC TACGGCTCCG 1741 1742 GAAGCAGCAG TGGGGGCTAC AGAGGTGGCT CTGGAGGCGG CGGCGGCGGC 1791 1792 AGCTCTGGCG GCCGGGGCTC TGGCGGCGGG AGCTCTGGAG GCTCCATAGG 1841 1842 AGGCCGGGGA TCCAGCTCTG GGGGTGTCAA GTCCTCTGGT GGCAGTTCCA 1891 1892 GCGTGAAGTT TGTTTCTACC ACTTATTCCG GAGTAACCAG ATAAAGAGAT *6 *7 GCCCTCTGTT TCATTAGCTC TAGTTCTCCC CCAGCATCAC TAACAAATAT *56 *57 GCTTGGCAAG ACCGAGGTCG ATTTGTCCCA GCCTTACCGG AGAAAAGAGC *106 *107 TATGGTTAGT TACACTAGCT CATCCTATTC CCCCAGCTCT TTCTTTTCTG *156 *157 CTGTTTCCCA ATGAAGTTTT CAGATCAGTG GCAATCTCAG TCCCCTGGCT *206 *207 ATGACCCTGC TTTGTTCTTT CCCTGAGAAA CAGTTCAGCA GTGACCACCA *256 *257 CCCACATGAC ATTTCAAAGC ACCTCCTTAA GCCAGCCAGA GTAGGACCAG *306 *307 TTAGACCCAG GGTGTGGACA GCTCCTTAGC ATCTTATCTC TGTGCTGTTT *356 *357 TGGTTTTGTA CATAAGGTGT AAGCAAGTTG TTTTTCTTTT GTGGAGAGGT *406 *407 CTTAAACTCC CCATTTCCTT GTTTTGCTGC AATAAACTGC ATTTGAAATT *456 *457 C Back to top

PROTEIN SEQUENCE AND DOMAIN INFORMATION

Reference sequence last updated on 2009-07-21 17:12:23 RefSeq ID NP_006112.3 GI 119395750 Isoelectric Point 8.3321 Molecular Weight 66066.6 Daltons Length 644 amino acids Download File | Text Sequence 1 MSRQFSSRSG YRSGGGFSSG SAGIINYQRR TTSSSTRRSG GGGGRFSSCG 50 51 GGGGSFGAGG GFGSRSLVNL GGSKSISISV ARGGGRGSGF GGGYGGGGFG 100 101 GGGFGGGGFG GGGIGGGGFG GFGSGGGGFG GGGFGGGGYG GGYGPVCPPG 150 151 GIQEVTINQS LLQPLNVEID PEIQKVKSRE REQIKSLNNQ FASFIDKVRF 200 201 LEQQNQVLQT KWELLQQVDT STRTHNLEPY FESFINNLRR RVDQLKSDQS 250 251 RLDSELKNMQ DMVEDYRNKY EDEINKRTNA ENEFVTIKKD VDGAYMTKVD 300 301 LQAKLDNLQQ EIDFLTALYQ AELSQMQTQI SETNVILSMD NNRSLDLDSI 350 351 IAEVKAQYED IAQKSKAEAE SLYQSKYEEL QITAGRHGDS VRNSKIEISE 400 401 LNRVIQRLRS EIDNVKKQIS NLQQSISDAE QRGENALKDA KNKLNDLEDA 450 451 LQQAKEDLAR LLRDYQELMN TKLALDLEIA TYRTLLEGEE SRMSGECAPN 500 501 VSVSVSTSHT TISGGGSRGG GGGGYGSGGS SYGSGGGSYG SGGGGGGGRG 550 551 SYGSGGSSYG SGGGSYGSGG GGGGHGSYGS GSSSGGYRGG SGGGGGGSSG 600 601 GRGSGGGSSG GSIGGRGSSS GGVKSSGGSS SVKFVSTTYS GVTR Head  L1 L12 L2  Tail 1A 1B 2A 2B Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position Head 1 180 1A 181 215 L1 216 227 1B 228 328 L12 329 345 2A 346 364 L2 365 372 2B 373 493 Tail 494 644 Back to top

MONOCLONAL ANTIBODIES

Information last updated on 2008-08-26 14:09:19 Clone Name Species Reported Specificity Epitope Reference 17βG3 mouse GFAP, K1, K10, vimentin - Gown and Vogel, 1984 34βE12 mouse K1, K5 - Gown and Vogel, 1982, Miettinen and Fetsch, 2000 34βB4 mouse K1 - Gown and Vogel, 1984 AE2 mouse K1, K2, K10 - Dhouailly et al, 1989, Cooper and Sun, 1986 CK2E mouse K1, K2, K5 - Collin et al, 1992 DE-SCK mouse Degraded K1, Degraded K10 - Ivanyi et al, 1989 KA5 mouse K1, K10 - Hormia et al, 1987 LL017 mouse K1 VSTTYSGVTR (C-terminal) Leigh et al, 1993 TS4 mouse K1, K5, K7, K8, K15 - Sundström et al, 1989, Upasani et al, 2004 Back to top

RELATED SEQUENCES AND MULTIPLE SEQUENCE ALIGNMENT

The following table shows the orthologous sequences in other organisms as indicated by NCBI HomoloGene ID 38146. Information last updated on 2007-08-17 12:30:53 Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division Rattus norvegicus 300250 NM_001008802.2 NP_001008802.1 Rodents Pan troglodytes 738375 XM_001139224.1 XP_001139224.1 Primates Mus musculus 16678 NM_008473.2 NP_032499.1 Rodents Canis familiaris 444857 NM_001003392.1 NP_001003392.1 Mammals Vertebrate ClustalW multiple sequence alignments Multiple sequence alignments were created using ClustalW for vertebrate sequences and the results available for viewing, download and visualization. Please use the analysis tools to include other sequences. Type of ClustalW alignment Download in FASTA format View file in FASTA format Nucleotide file view Protein file view Back to top

ASSOCIATED DISEASES

Information last updated on 2009-08-05 16:00:01 Click SEQUENCE VARIANTS to find individual mutations. Disease Name Disease Abbreviation OMIM Bullous erythroderma ichthyosiformis congenita of Brocq, bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis BCIE/EHK #113800 Epidermolytic palmoplantar keratoderma EPPK #144200 Greither's syndrome GS #144200 Ichthyosis hystrix, Curth-Mackin type IHCM #146590 Palmoplantar keratoderma and mild ichthyosis PPK Palmoplantar keratoderma, nonepidermolytic NEPPK #600962 Striate palmoplantar keratoderma SPPK #607654 Back to top

SEQUENCE VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2009-08-05 16:00:01 * 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 13513 c.1310T>C Substitution p.Leu437Pro Substitution - NEPPK Liu et al, 2009 13536 c.698C>T Substitution p.Ser233Leu Substitution - NEPPK Grimberg et al, 2009 13538 c.698C>T Substitution p.Ser233Leu Substitution - NEPPK Grimberg et al, 2009 13541 c.693T>G Substitution p.Phe231Leu Substitution - NEPPK Grimberg et al, 2009 8714 c.221A>T Substitution p.Lys74Ile Substitution Head NEPPK Kimonis et al, 1994 9437 c.464T>G Substitution p.Val155Gly Substitution Head BCIE/EHK Yang et al, 1994 8724 c.464T>A Substitution p.Val155Asp Substitution Head BCIE/EHK Whittock et al, 2001 8707 c.482T>C Substitution p.Leu161Pro Substitution Head BCIE/EHK Chipev et al, 1992 9593 c.502_513del12 Deletion p.Glu168_Pro171del Deletion Head - Virtanen et al, 2001 8959 c.508_519del12 Deletion p.Asp170_Ile173del Deletion Head BCIE/EHK Virtanen et al, 2003 8725 c.531G>T Substitution p.Lys177Asn Substitution Head BCIE/EHK Virtanen et al, 2001 9267 c.531G>T Substitution p.Lys177Asn Substitution Head BCIE/EHK Virtanen et al, 2003 9482 c.536G>C Substitution p.Arg179Pro Substitution Head BCIE/EHK Yang et al, 1996 8711 c.556T>C Substitution p.Ser186Pro Substitution 1A BCIE/EHK McLean et al, 1994 9085 c.559C>T Substitution p.Leu187Phe Substitution 1A BCIE/EHK Uezato et al, 2005 11733 c.559C>T Substitution p.Leu187Phe Substitution 1A BCIE/EHK Math et al, 2006 8708 c.563A>G Substitution p.Asn188Ser Substitution 1A BCIE/EHK Yang et al, 1994 8712 c.563A>G Substitution p.Asn188Ser Substitution 1A BCIE/EHK McLean et al, 1994 8720 c.563A>C Substitution p.Asn188Thr Substitution 1A BCIE/EHK Arin et al, 1999 8727 c.563A>G Substitution p.Asn188Ser Substitution 1A BCIE/EHK Nomura et al, 2001 9238 c.563A>G Substitution p.Asn188Ser Substitution 1A GS Gach et al, 2005 8729 c.564C>A Substitution p.Asn188Lys Substitution 1A BCIE/EHK Lee et al, 2002 11727 c.571T>A Substitution p.Phe191Ile Substitution 1A BCIE/EHK Chassaing et al, 2006 8958 c.572T>G Substitution p.Phe191Cys Substitution 1A BCIE/EHK Virtanen et al, 2003 8726 c.573T>G Substitution p.Phe191Leu Substitution 1A BCIE/EHK Virtanen et al, 2001 8709 c.577T>C Substitution p.Ser193Pro Substitution 1A BCIE/EHK Yang et al, 1994 9591 c.591+1G>C Substitution p.? Unknown Unknown BCIE/EHK Virtanen et al, 2001 9592 c.591+1G>A Substitution p.? Unknown Unknown BCIE/EHK Virtanen et al, 2001 9595 c.591+2T>A Substitution p.Val176_Lys197del Deletion Head, 1A PPK Terron-Kwiatkowski et al, 2002 11778 c.591+2T>A Substitution p.Val176_Lys197del Deletion Head, 1A BCIE/EHK Tsubota et al, 2007 9280 c.591+3_591+6delGAGT Deletion p.Val176_Lys197del Deletion Head, 1A BCIE/EHK Tal et al, 2005 9094 c.623T>C Substitution p.Leu208Pro Substitution 1A BCIE/EHK Liu et al, 2006 8723 c.641T>C Substitution p.Leu214Pro Substitution 1A BCIE/EHK Cserhalmi-Friedman et al, 2000 9091 c.698C>T Substitution p.Ser233Leu Substitution 1B EPPK Terron-Kwiatkowski et al, 2006 11520 c.698C>T Substitution p.Ser233Leu Substitution 1B EPPK Terron-Kwiatkowski et al, 2006 8716 c.1019A>T Substitution p.Asp340Val Substitution L12 BCIE/EHK Kremer et al, 1998 9210 c.1072A>T Substitution p.Asn358Tyr Substitution 2A - Terron-Kwiatkowski et al, 2006 9338 c.1254+1G>A Substitution p.Gln418_Ile419ins18 Insertion 2B EPPK Hatsell et al, 2001 11402 c.1254+1G>A Substitution p.Gln418_Ile419ins18 Insertion 2B EPPK Hatsell et al, 2001 11403 c.1254+1G>A Substitution p.Gln418_Ile419ins18 Insertion 2B EPPK Hatsell et al, 2001 11425 c.1376_1399del24 Deletion p.Ala459_Gln466del Deletion 2B PPK Terron-Kwiatkowski et al, 2002 8728 c.1432G>A Substitution p.Glu478Lys Substitution 2B BCIE/EHK Sun et al, 2002 9489 c.1434G>T Substitution p.Glu478Asp Substitution 2B BCIE/EHK Yang et al, 1999 12616 c.1434G>T Substitution p.Glu478Asp Substitution 2B BCIE/EHK Tsubota et al, 2008 8718 c.1435A>T Substitution p.Ile479Phe Substitution 2B BCIE/EHK Sybert et al, 1999 8721 c.1435A>T Substitution p.Ile479Phe Substitution 2B BCIE/EHK Michael et al, 1999 8717 c.1436T>C Substitution p.Ile479Thr Substitution 2B BCIE/EHK Sybert et al, 1999 8722 c.1436T>C Substitution p.Ile479Thr Substitution 2B BCIE/EHK Arin et al, 2000 9084 c.1436T>C Substitution p.Ile479Thr Substitution 2B EPPK Terron-Kwiatkowski et al, 2004 8957 c.1441A>C Substitution p.Thr481Pro Substitution 2B BCIE/EHK Muramatsu et al, 2005 8713 c.1445A>G Substitution p.Tyr482Cys Substitution 2B BCIE/EHK Syder et al, 1994 8730 c.1457T>C Substitution p.Leu486Pro Substitution 2B BCIE/EHK Lee et al, 2002 11728 c.1465G>A Substitution p.Glu489Lys Substitution 2B BCIE/EHK Chassaing et al, 2006 8706 c.1468G>C Substitution p.Glu490Gln Substitution 2B BCIE/EHK Rothnagel et al, 1992 9093 c.1469A>G Substitution p.Glu490Gly Substitution 2B BCIE/EHK Shimomura et al, 2006 9089 c.1556_1556delG Deletion p.Gly519GlufsX94 Frame shift Tail IHCM Richardson et al, 2006 9337 c.1609_1610delGGinsA Indel p.Gly537IlefsX77 Frame shift Tail IHCM Sprecher et al, 2001 9594 c.1628delG Deletion p.Gly543ValfsX70 Frame shift Tail SPPK Whittock et al, 2002 9596 c.1751_1752insG Insertion p.Tyr587LeufsX67 Frame shift Tail BCIE/EHK Sprecher et al, 2003 Back to top

ALLELIC VARIANTS

Note that a single record in the following table may represent multiple people with that particular variant who are in the same family. Click here to download an Excel spreadsheet of this data. Click here to open table in a new window (for ease of viewing and printing). Information last updated on 2006-11-13 15:44:00 * 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 9086 c.720G>A Substitution p.= Silent Not affected African-American - Richardson et al, 2006 9092 c.800G>A Substitution p.Arg267Gln Substitution 1B Caucasian - Terron-Kwiatkowski et al, 2006 9087 c.1389C>T Substitution p.= Silent Not affected African-American - Richardson et al, 2006 9088 c.1413C>A Substitution p.= Silent Not affected African-American - Richardson et al, 2006 9324 c.1570_1596del27 Deletion p.Gly524_Tyr532del Deletion Tail African-American - Richardson et al, 2006 9090 c.1657_1677del21 Deletion p.Gly553_Tyr559del Deletion Tail African-American - Richardson et al, 2006 9211 c.1762G>A Substitution p.Gly588Arg Substitution Tail Caucasian - Terron-Kwiatkowski et al, 2006 Back to top