Human Intermediate Filament Database

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Human Intermediate Filament Database - K19

Intermediate Filament Details

Protein Name	keratin 19, K19
Gene Symbol	KRT19
Intermediate Filament Type	I
HGNC ID	6436
OMIM ID	*148020
NCBI Gene ID	3880

INTEGRATED SEQUENCE VIEW
Information last updated on 2009-07-21 17:05:38
* 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 17q21.2
Chromosome Strand -
Chromosome GI 51511734
Chromosome RefSeq ID NC_000017.9
36938167 : AGATATCCGC CCCTGACACC ATTCCTCCCT TCCCCCCTCC ACCGGCCGCG : 36938118 -142 : AGATATCCGC CCCTGACACC ATTCCTCCCT TCCCCCCTCC ACCGGCCGCG : -93 36938117 : GGCATAAAAG GCGCCAGGTG AGGGCCTCGC CGCTCCTCCC GCGAATCGCA : 36938068 -92 : GGCATAAAAG GCGCCAGGTG AGGGCCTCGC CGCTCCTCCC GCGAATCGCA : -43 36938067 : GCTTCTGAGA CCAGGGTTGC TCCGTCCGTG CTCCGCCTCG CCATGACTTC : 36938018 -42 : GCTTCTGAGA CCAGGGTTGC TCCGTCCGTG CTCCGCCTCG CCATGACTTC : 8 1 : M T S : 3 36938017 : CTACAGCTAT CGCCAGTCGT CGGCCACGTC GTCCTTCGGA GGCCTGGGCG : 36937968 9 : CTACAGCTAT CGCCAGTCGT CGGCCACGTC GTCCTTCGGA GGCCTGGGCG : 58 4 : Y S Y R Q S S A T S S F G G L G : 19 36937967 : GCGGCTCCGT GCGTTTTGGG CCGGGGGTCG CCTTTCGCGC GCCCAGCATT : 36937918 59 : GCGGCTCCGT GCGTTTTGGG CCGGGGGTCG CCTTTCGCGC GCCCAGCATT : 108 20 : G G S V R F G P G V A F R A P S I : 36 36937917 : CACGGGGGCT CCGGCGGCCG CGGCGTATCC GTGTCCTCCG CCCGCTTTGT : 36937868 109 : CACGGGGGCT CCGGCGGCCG CGGCGTATCC GTGTCCTCCG CCCGCTTTGT : 158 37 : H G G S G G R G V S V S S A R F V : 53 36937867 : GTCCTCGTCC TCCTCGGGGG CCTACGGCGG CGGCTACGGC GGCGTCCTGA : 36937818 159 : GTCCTCGTCC TCCTCGGGGG CCTACGGCGG CGGCTACGGC GGCGTCCTGA : 208 54 : S S S S S G A Y G G G Y G G V L : 69 36937817 : CCGCGTCCGA CGGGCTGCTG GCGGGCAACG AGAAGCTAAC CATGCAGAAC : 36937768 209 : CCGCGTCCGA CGGGCTGCTG GCGGGCAACG AGAAGCTAAC CATGCAGAAC : 258 70 : T A S D G L L A G N E K L T M Q N : 86 36937767 : CTCAACGACC GCCTGGCCTC CTACCTGGAC AAGGTGCGCG CCCTGGAGGC : 36937718 259 : CTCAACGACC GCCTGGCCTC CTACCTGGAC AAGGTGCGCG CCCTGGAGGC : 308 87 : L N D R L A S Y L D K V R A L E A : 103 36937717 : GGCCAACGGC GAGCTAGAGG TGAAGATCCG CGACTGGTAC CAGAAGCAGG : 36937668 309 : GGCCAACGGC GAGCTAGAGG TGAAGATCCG CGACTGGTAC CAGAAGCAGG : 358 104 : A N G E L E V K I R D W Y Q K Q : 119 36937667 : GGCCTGGGCC CTCCCGCGAC TACAGCCACT ACTACACGAC CATCCAGGAC : 36937618 359 : GGCCTGGGCC CTCCCGCGAC TACAGCCACT ACTACACGAC CATCCAGGAC : 408 120 : G P G P S R D Y S H Y Y T T I Q D : 136 36937617 : CTGCGGGACA AGGTGGGCGG AGGCCCGGCC GCGGGAAGTG CAGTGCACCT : 36937568 409 : CTGCGGGACA AG : 420 137 : L R D K : 140 36937567 : GCCGCGGAAA CCCAGCCCCG CGGGCCGGGC GAGGTTCCAG GCGGGGCGGC : 36937518 36937517 : GGGCAGGAGC CCGTTAGGAC GTGGGAAGGT CCACAGGTGG GGCCGAGTAA : 36937468 36937467 : AGGGGGACAG GAGACGTGCG GGGCAGGACC TCGGGGCTGG ATGCAGAGGC : 36937418 36937417 : CGGGGTGGTG GAAAGGGGAG GAGAACTGGG CAGGGCAGAT AAGTGGGTGG : 36937368 36937367 : GGCCTCTGGA GGTGGCGGGG GCAAGGTTGG AGCCCCGGGA CGAAGAAGGG : 36937318 36937317 : ACGCGGGTCA GCGAGGCCTG AAGAGTGGGA GGAGATGGGA CCCGGCTGTA : 36937268 36937267 : GAGTGCCCAG AGGTCTAGGC CAGGGGCCGC GCTGCCGCAG GAAGATGCGA : 36937218 36937217 : GAGTTTGGCT TTGGTGATCT GGTCCACCCG GGGCCAGTCT TGCCCCCTCT : 36937168 36937167 : GCCACCGCAG CGTAGGGCCT CCTGCATTCC GTTTCTCTGG CCGGAAGGGT : 36937118 36937117 : CTAGTGTTCA TCCCTCTCAG GCTTTGGCCT CCTCCCACTC TCCCGCCCTG : 36937068 36937067 : GGGCCCATTC GTTTAGGAAG AATGGGAGAG CCGGTCGTGG CCCCTGGGCG : 36937018 36937017 : GGGTAAAGGA GGGAGGCTTG GTAAACCTCT GCTGGGGAGG ACCCAGTACA : 36936968 36936967 : GTGGCAGCTC CTTGTCGGGG AAAGAACGGA TCTGCGTCAC ACGCTCTTAC : 36936918 36936917 : AGGGGAACCC TAAGGGGCCT GAGGGGTAGG GCTTGGTCTC CACCCAGAGG : 36936868 36936867 : GAAGGAGAAA TTTTTCGAGT CGTAAAGAAA TGTATCAGAA GCCATGGAAC : 36936818 36936817 : ATTTACAGCC GCACACGCTG GGTCTCCCAA CAAACAGATC CCCAAAATAT : 36936768 36936767 : TTTCCAGTGC TGTACTCGTG GCATAGACCC AGACCCACAG ACCAGGAGGA : 36936718 36936717 : AGCGCTAGAG ATGTCAACAG CCAACAAAAA CAGTGCTTTA CACACTTGTA : 36936668 36936667 : AAATTGTGAC CTACAGGGGC TGGGCACTGT GGCTCACGCC TGTAACCCCA : 36936618 36936617 : GCACTTTGGG TGGCCAAGGT GGGAGGATTG CTTGAGCCCC AGGAGTTCGA : 36936568 36936567 : GATCAGCCTG GCAAACATGG TAAAATCCTG TCTCTACTAA AAATACAAAA : 36936518 36936517 : ATTAGCTGGG CGTGGTGGTG CATGCCTGTA ATCCCAGCTA CCTGGGAGGC : 36936468 36936467 : TGAGGCAGGA GAATTGCTGG AACCCAAGAG GCGGAGGCTG CAGTGAGCCG : 36936418 36936417 : AGATTGCGCC ATTGCACTTC AGTCTCGGCC ACAGAGCGAG AGTCCGTCTC : 36936368 36936367 : AAAAAAAAAA AAAAAAAAAA AAAAAAAGGA ATTAGCTTGG CATGGTGGCG : 36936318 36936317 : TGTGCCTTGC AGCGAGCTGT ACGTGATCAG TGCCACTGCA CTCCAGCCTG : 36936268 36936267 : GGGCAACACA GCGAGACCCT GTATCAAAAA AAAAAAAAAA TTGCGACAAT : 36936218 36936217 : AAGTACATTT TACTACGCAC CCTTACGCAT TCTTTTTCTC ACCTCTGTGT : 36936168 36936167 : GTGTGTGTGC GTGCACATGC ACACACACAA ATGGGTGACA CAATTCTCAC : 36936118 36936117 : CATACTAAGA GAAATCCCCT CTGATATTTT GTAGCCTATT CTGTTGCATT : 36936068 36936067 : AAAAAACTAC ACAATCGGCC GGGCGCGGTG GCTCATGCCT GTAATCCCAG : 36936018 36936017 : CACTTTGGGA GGCGGAGGCG GGCGGATCAC GAGGTCAGGA GATCCAGACC : 36935968 36935967 : ATCCTGGCTA ACACGGTGAA ACCCCGTCTC TACTAAAAAT ACAAAAAAAA : 36935918 36935917 : ATTAGCTGGG CGTGGTGGAG GGCGCCTGTA GTCCCAGCTA CTCAGGAGGC : 36935868 36935867 : TGAGGCAGGA GAATGGCGTG AACCCGGGAG GCGGGGCTTG CAGTGAGCCG : 36935818 36935817 : AGATCGCGAC GCTGCACTCC AGCCTGGGTG ACAGAGCGAG ACTCTGTCTC : 36935768 36935767 : AAAAAAACCC CAAAAAACAA AACCAAAAAA CCCCCCCAAA ACACAAAACT : 36935718 36935717 : ATACAATCAC CACCTGGTGC CTTGACTAAT GAGTGATGAC CTGCTCTTTG : 36935668 36935667 : AAAAACAGAA CACAATTACC TTATTCAATG ATAAGCTGGC TGTTGTGAAT : 36935618 36935617 : GCGCCTCTTA GGTCAGTAAG ACCTCAGGTT GGGGTGAACT TGGATGAGGC : 36935568 36935567 : ATCATCCTAA ACTTTAGTTT CCACCTCTGT AAGATAGGAG TACCCACTGA : 36935518 36935517 : CCTAGCAGTG AGGTTCCAGA AGCTATAAAA GATGAGATTC AAAGTGCCTG : 36935468 36935467 : GCACATAATT GATACTCAAC AAATGGGATT CTCTTCCCTG GGGGCAAAAT : 36935418 36935417 : ATGCTTCGCA TAGTGGGGGG GGCAGGTATA GACAAAATCT ACCCCCCATC : 36935368 36935367 : TGGTTTATAG ACCCCCTTCA GGCCATTTAG AGTTTCATTG CACACAGGTC : 36935318 36935317 : TCAGAGATTT CCTCCCCAGG CTTGCCTTCC TGCCCTCCCC CACCCAAGTC : 36935268 36935267 : CCCCTGGCTC CAGTTTTCTT CCTGCCCCAG CTTCTGGGCA TGGACTGTTT : 36935218 36935217 : GCAAGGCCTC CCAGAGAGCG GGCCAATGGG CGGCAGATGC TGGCTAGGGC : 36935168 36935167 : TTTGGTCTCT AGGGTGCCGG GGTATATTCA TTTGCTCCCC TCTCTCTTCT : 36935118 36935117 : GGGAAGAAAG TGAGTGGGCA GTGCCTGTGT GTTGAACTGG TACCAACCTC : 36935068 36935067 : TGCCTCTGCC TTCCAGATTC TTGGTGCCAC CATTGAGAAC TCCAGGATTG : 36935018 421 : ATTC TTGGTGCCAC CATTGAGAAC TCCAGGATTG : 454 141 : I L G A T I E N S R I : 151 36935017 : TCCTGCAGAT CGACAATGCC CGTCTGGCTG CAGATGACTT CCGAACCAAG : 36934968 455 : TCCTGCAGAT CGACAATGCC CGTCTGGCTG CAGATGACTT CCGAACCAA : 503 152 : V L Q I D N A R L A A D D F R T K : 168 36934967 : TGAGTGTCTC TGTCCTGGGG GCTGCAGAAG CCAGGACTGG GGTAGGGGTT : 36934918 36934917 : GGGGGGTTTA GAATCTGCCC TCACCTAGCC TAGATGGCCT GAAGCTAACC : 36934868 36934867 : CCCCTATGGA CTCCTGAACT CTGGGGAGGT AGGGAAGTCT TCAGAGATGC : 36934818 36934817 : TGAGGAAGCT CTGCCTGGCT GCAACTATTT CCTTTGAAAG GTTTGAGACG : 36934768 504 : GTTTGAGACG : 513 169 : F E T : 171 36934767 : GAACAGGCTC TGCGCATGAG CGTGGAGGCC GACATCAACG GCCTGCGCAG : 36934718 514 : GAACAGGCTC TGCGCATGAG CGTGGAGGCC GACATCAACG GCCTGCGCAG : 563 172 : E Q A L R M S V E A D I N G L R R : 188 36934717 : GGTGCTGGAT GAGCTGACCC TGGCCAGGAC CGACCTGGAG ATGCAGATCG : 36934668 564 : GGTGCTGGAT GAGCTGACCC TGGCCAGGAC CGACCTGGAG ATGCAGATCG : 613 189 : V L D E L T L A R T D L E M Q I : 204 36934667 : AAGGCCTGAA GGAAGAGCTG GCCTACCTGA AGAAGAACCA TGAGGAGGTG : 36934618 614 : AAGGCCTGAA GGAAGAGCTG GCCTACCTGA AGAAGAACCA TGAGGAG : 660 205 : E G L K E E L A Y L K K N H E E : 220 36934617 : GGTTTGAAGC TGGGCCTTTC TTCCATCCTT CCCTAACCTC CCAGGGCTGA : 36934568 36934567 : AGACTCTTTT ATTCTGTATT CTCTGACCGT GGTAACACTT GGTGCACCCT : 36934518 36934517 : CACCATGGCC CTGGGTGTGG GATCATGGAT CCCAGGGTTC CAAGAGGAAT : 36934468 36934467 : CAGTGATGAC CCAGTCTGTC CCCCAGTGCT AGTTACTAGG CCTGCACCTG : 36934418 36934417 : AAAACTAAGC CCCTTTAGCC TGAAGGGTGG GGAAGTGACC TGGGCCAGGC : 36934368 36934367 : CCAGTGGGGT CTGGGCCCTG ACATGCCCAT CTCTGCTGTA TCTTTACAGG : 36934318 661 : G : 661 36934317 : AAATCAGTAC GCTGAGGGGC CAAGTGGGAG GCCAGGTCAG TGTGGAGGTG : 36934268 662 : AAATCAGTAC GCTGAGGGGC CAAGTGGGAG GCCAGGTCAG TGTGGAGGTG : 711 221 : E I S T L R G Q V G G Q V S V E V : 237 36934267 : GATTCCGCTC CGGGCACCGA TCTCGCCAAG ATCCTGAGTG ACATGCGAAG : 36934218 712 : GATTCCGCTC CGGGCACCGA TCTCGCCAAG ATCCTGAGTG ACATGCGAAG : 761 238 : D S A P G T D L A K I L S D M R S : 254 36934217 : CCAATATGAG GTCATGGCCG AGCAGAACCG GAAGGATGCT GAAGCCTGGT : 36934168 762 : CCAATATGAG GTCATGGCCG AGCAGAACCG GAAGGATGCT GAAGCCTGGT : 811 255 : Q Y E V M A E Q N R K D A E A W : 270 36934167 : TCACCAGCCG GGTAGGTAGA GGGAAGCAGG CACCCTTTGG GGGTTAGGAA : 36934118 812 : TCACCAGCCG G : 822 271 : F T S R : 274 36934117 : GGGGAGGGCT TTGTGTTCCC TACGCGAAGG TCTGACTCAA TGCTTATTCC : 36934068 36934067 : CTCTTCTTCC TCTCTCTGCA GACTGAAGAA TTGAACCGGG AGGTCGCTGG : 36934018 823 : ACTGAAGAA TTGAACCGGG AGGTCGCTGG : 851 275 : T E E L N R E V A G : 284 36934017 : CCACACGGAG CAGCTCCAGA TGAGCAGGTC CGAGGTTACT GACCTGCGGC : 36933968 852 : CCACACGGAG CAGCTCCAGA TGAGCAGGTC CGAGGTTACT GACCTGCGGC : 901 285 : H T E Q L Q M S R S E V T D L R : 300 36933967 : GCACCCTTCA GGGTCTTGAG ATTGAGCTGC AGTCACAGCT GAGCATGGTA : 36933918 902 : GCACCCTTCA GGGTCTTGAG ATTGAGCTGC AGTCACAGCT GAGCATG : 948 301 : R T L Q G L E I E L Q S Q L S M : 316 36933917 : TGTGTCCCCC CACCGCCGCC GCTTCCCTGT GCAATTCACA CTTATACCCT : 36933868 36933867 : TGCAGCCTAG GGCAGCCTGG CCGGTGGCTG TGCCCATGCC CTCTCCGGGA : 36933818 36933817 : ACCAGGCTCT GCTGAGTCAC AACCCCCTCT CCCTATCCTC AGAAAGCTGC : 36933768 949 : AAAGCTGC : 956 317 : K A A : 319 36933767 : CTTGGAAGAC ACACTGGCAG AAACGGAGGC GCGCTTTGGA GCCCAGCTGG : 36933718 957 : CTTGGAAGAC ACACTGGCAG AAACGGAGGC GCGCTTTGGA GCCCAGCTGG : 1006 320 : L E D T L A E T E A R F G A Q L : 335 36933717 : CGCATATCCA GGCGCTGATC AGCGGTATTG AAGCCCAGCT GGGCGATGTG : 36933668 1007 : CGCATATCCA GGCGCTGATC AGCGGTATTG AAGCCCAGCT GGGCGATGTG : 1056 336 : A H I Q A L I S G I E A Q L G D V : 352 36933667 : CGAGCTGATA GTGAGCGGCA GAATCAGGAG TACCAGCGGC TCATGGACAT : 36933618 1057 : CGAGCTGATA GTGAGCGGCA GAATCAGGAG TACCAGCGGC TCATGGACAT : 1106 353 : R A D S E R Q N Q E Y Q R L M D I : 369 36933617 : CAAGTCGCGG CTGGAGCAGG AGATTGCCAC CTACCGCAGC CTGCTCGAGG : 36933568 1107 : CAAGTCGCGG CTGGAGCAGG AGATTGCCAC CTACCGCAGC CTGCTCGAGG : 1156 370 : K S R L E Q E I A T Y R S L L E : 385 36933567 : GACAGGAAGA TCACTACAAC AATTTGTCTG CCTCCAAGGT CCTCTGAGGC : 36933518 1157 : GACAGGAAGA TCACTACAAC AATTTGTCTG CCTCCAAGGT CCTCTGAGGC : *3 386 : G Q E D H Y N N L S A S K V L : 400 36933517 : AGCAGGCTCT GGGGCTTCTG CTGTCCTTTG GAGGGTGTCT TCTGGGTAGA : 36933468 *4 : AGCAGGCTCT GGGGCTTCTG CTGTCCTTTG GAGGGTGTCT TCTGGGTAGA : *53 36933467 : GGGATGGGAA GGAAGGGACC CTTACCCCCG GCTCTTCTCC TGACCTGCCA : 36933418 *54 : GGGATGGGAA GGAAGGGACC CTTACCCCCG GCTCTTCTCC TGACCTGCCA : *103 36933417 : ATAAAAATTT ATGGTCCAAG GGA------- ---------- -- : 36933395 *104 : ATAAAAATTT ATGGTCCAAG GGAAAAAAAA AAAAAAAAAA AA : *145
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mRNA SEQUENCE
Reference sequence last updated on 2009-07-21 17:05:38
RefSeq ID NM_002276.4
GI 131412244
Length 1490 nucleotides
Download File | Text
Sequence
Legend: Blue = CDS, Red = UTR
-142 AGATATCCGC CCCTGACACC ATTCCTCCCT TCCCCCCTCC ACCGGCCGCG -93 -92 GGCATAAAAG GCGCCAGGTG AGGGCCTCGC CGCTCCTCCC GCGAATCGCA -43 -42 GCTTCTGAGA CCAGGGTTGC TCCGTCCGTG CTCCGCCTCG CCATGACTTC 8 9 CTACAGCTAT CGCCAGTCGT CGGCCACGTC GTCCTTCGGA GGCCTGGGCG 58 59 GCGGCTCCGT GCGTTTTGGG CCGGGGGTCG CCTTTCGCGC GCCCAGCATT 108 109 CACGGGGGCT CCGGCGGCCG CGGCGTATCC GTGTCCTCCG CCCGCTTTGT 158 159 GTCCTCGTCC TCCTCGGGGG CCTACGGCGG CGGCTACGGC GGCGTCCTGA 208 209 CCGCGTCCGA CGGGCTGCTG GCGGGCAACG AGAAGCTAAC CATGCAGAAC 258 259 CTCAACGACC GCCTGGCCTC CTACCTGGAC AAGGTGCGCG CCCTGGAGGC 308 309 GGCCAACGGC GAGCTAGAGG TGAAGATCCG CGACTGGTAC CAGAAGCAGG 358 359 GGCCTGGGCC CTCCCGCGAC TACAGCCACT ACTACACGAC CATCCAGGAC 408 409 CTGCGGGACA AGATTCTTGG TGCCACCATT GAGAACTCCA GGATTGTCCT 458 459 GCAGATCGAC AATGCCCGTC TGGCTGCAGA TGACTTCCGA ACCAAGTTTG 508 509 AGACGGAACA GGCTCTGCGC ATGAGCGTGG AGGCCGACAT CAACGGCCTG 558 559 CGCAGGGTGC TGGATGAGCT GACCCTGGCC AGGACCGACC TGGAGATGCA 608 609 GATCGAAGGC CTGAAGGAAG AGCTGGCCTA CCTGAAGAAG AACCATGAGG 658 659 AGGAAATCAG TACGCTGAGG GGCCAAGTGG GAGGCCAGGT CAGTGTGGAG 708 709 GTGGATTCCG CTCCGGGCAC CGATCTCGCC AAGATCCTGA GTGACATGCG 758 759 AAGCCAATAT GAGGTCATGG CCGAGCAGAA CCGGAAGGAT GCTGAAGCCT 808 809 GGTTCACCAG CCGGACTGAA GAATTGAACC GGGAGGTCGC TGGCCACACG 858 859 GAGCAGCTCC AGATGAGCAG GTCCGAGGTT ACTGACCTGC GGCGCACCCT 908 909 TCAGGGTCTT GAGATTGAGC TGCAGTCACA GCTGAGCATG AAAGCTGCCT 958 959 TGGAAGACAC ACTGGCAGAA ACGGAGGCGC GCTTTGGAGC CCAGCTGGCG 1008 1009 CATATCCAGG CGCTGATCAG CGGTATTGAA GCCCAGCTGG GCGATGTGCG 1058 1059 AGCTGATAGT GAGCGGCAGA ATCAGGAGTA CCAGCGGCTC ATGGACATCA 1108 1109 AGTCGCGGCT GGAGCAGGAG ATTGCCACCT ACCGCAGCCT GCTCGAGGGA 1158 1159 CAGGAAGATC ACTACAACAA TTTGTCTGCC TCCAAGGTCC TCTGAGGCAG *5 *6 CAGGCTCTGG GGCTTCTGCT GTCCTTTGGA GGGTGTCTTC TGGGTAGAGG *55 *56 GATGGGAAGG AAGGGACCCT TACCCCCGGC TCTTCTCCTG ACCTGCCAAT *105 *106 AAAAATTTAT GGTCCAAGGG AAAAAAAAAA AAAAAAAAAA
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PROTEIN SEQUENCE AND DOMAIN INFORMATION
Reference sequence last updated on 2009-07-21 17:05:38
RefSeq ID NP_002267.2
GI 24234699
Isoelectric Point 4.7812
Molecular Weight 44105.9 Daltons
Length 400 amino acids
Download File | Text
Sequence
1 MTSYSYRQSS ATSSFGGLGG GSVRFGPGVA FRAPSIHGGS GGRGVSVSSA 50 51 RFVSSSSSGA YGGGYGGVLT ASDGLLAGNE KLTMQNLNDR LASYLDKVRA 100 101 LEAANGELEV KIRDWYQKQG PGPSRDYSHY YTTIQDLRDK ILGATIENSR 150 151 IVLQIDNARL AADDFRTKFE TEQALRMSVE ADINGLRRVL DELTLARTDL 200 201 EMQIEGLKEE LAYLKKNHEE EISTLRGQVG GQVSVEVDSA PGTDLAKILS 250 251 DMRSQYEVMA EQNRKDAEAW FTSRTEELNR EVAGHTEQLQ MSRSEVTDLR 300 301 RTLQGLEIEL QSQLSMKAAL EDTLAETEAR FGAQLAHIQA LISGIEAQLG 350 351 DVRADSERQN QEYQRLMDIK SRLEQEIATY RSLLEGQEDH YNNLSASKVL 400
Head L1 L12 L2 Tail
1A 1B 2A 2B
Domain Name Probable Starting Amino Acid Position Probable Ending Amino Acid Position
Head 1 80
1A 81 115
L1 116 126
1B 127 227
L12 228 243
2A 244 262
L2 263 270
2B 271 391
Tail 392 400
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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 1713.
Information last updated on 2007-08-17 12:26:53
Organism NCBI Gene ID mRNA Accession Protein Accession Taxonomy division
Gallus gallus 395861 NM_205009.1 NP_990340.1 Vertebrates
Mus musculus 16669 NM_008471.2 NP_032497.1 Rodents
Rattus norvegicus 360626 NM_199498.1 NP_955792.1 Rodents
Pan troglodytes 454663 XM_511487.2 XP_511487.2 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 2009-10-22 12:27:24
Click SEQUENCE VARIANTS to find individual mutations.
Disease Name Disease Abbreviation OMIM
Primary biliary cirrhosis PBC %109720
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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 2009-10-22 12:27:24

* 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
13709 c.49G>A Substitution p.Gly17Ser Substitution - PBC Zhong et al, 2009
13710 c.49G>A Substitution p.Gly17Ser Substitution - PBC Zhong et al, 2009
13711 c.49G>A Substitution p.Gly17Ser Substitution - PBC Zhong et al, 2009
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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 2009-10-28 16:16:22

* 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
12825 c.90T>C - p.= - - - - Tao et al, 2007
12671 c.-340A>G - NA - - - - Tao et al, 2007
12721 c.-99G>C - NA - - - - Tao et al, 2007
12911 c.471C>T - p.= - - - - Tao et al, 2007
12984 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12617 c.-340A>G - NA - - - - Tao et al, 2007
12618 c.-340A>G - NA - - - - Tao et al, 2007
12619 c.-340A>G - NA - - - - Tao et al, 2007
12620 c.-340A>G - NA - - - - Tao et al, 2007
12621 c.-340A>G - NA - - - - Tao et al, 2007
12622 c.-340A>G - NA - - - - Tao et al, 2007
12623 c.-340A>G - NA - - - - Tao et al, 2007
12624 c.-340A>G - NA - - - - Tao et al, 2007
12625 c.-340A>G - NA - - - - Tao et al, 2007
12626 c.-340A>G - NA - - - - Tao et al, 2007
12627 c.-340A>G - NA - - - - Tao et al, 2007
12628 c.-340A>G - NA - - - - Tao et al, 2007
12629 c.-340A>G - NA - - - - Tao et al, 2007
12630 c.-340A>G - NA - - - - Tao et al, 2007
12631 c.-340A>G - NA - - - - Tao et al, 2007
12632 c.-340A>G - NA - - - - Tao et al, 2007
12633 c.-340A>G - NA - - - - Tao et al, 2007
12634 c.-340A>G - NA - - - - Tao et al, 2007
12635 c.-340A>G - NA - - - - Tao et al, 2007
12636 c.-340A>G - NA - - - - Tao et al, 2007
12637 c.-340A>G - NA - - - - Tao et al, 2007
12638 c.-340A>G - NA - - - - Tao et al, 2007
12639 c.-340A>G - NA - - - - Tao et al, 2007
12640 c.-340A>G - NA - - - - Tao et al, 2007
12641 c.-340A>G - NA - - - - Tao et al, 2007
12642 c.-340A>G - NA - - - - Tao et al, 2007
12643 c.-340A>G - NA - - - - Tao et al, 2007
12644 c.-340A>G - NA - - - - Tao et al, 2007
12645 c.-340A>G - NA - - - - Tao et al, 2007
12646 c.-340A>G - NA - - - - Tao et al, 2007
12647 c.-340A>G - NA - - - - Tao et al, 2007
12648 c.-340A>G - NA - - - - Tao et al, 2007
12649 c.-340A>G - NA - - - - Tao et al, 2007
12650 c.-340A>G - NA - - - - Tao et al, 2007
12651 c.-340A>G - NA - - - - Tao et al, 2007
12652 c.-340A>G - NA - - - - Tao et al, 2007
12653 c.-340A>G - NA - - - - Tao et al, 2007
12654 c.-340A>G - NA - - - - Tao et al, 2007
12655 c.-340A>G - NA - - - - Tao et al, 2007
12656 c.-340A>G - NA - - - - Tao et al, 2007
12657 c.-340A>G - NA - - - - Tao et al, 2007
12658 c.-340A>G - NA - - - - Tao et al, 2007
12659 c.-340A>G - NA - - - - Tao et al, 2007
12660 c.-340A>G - NA - - - - Tao et al, 2007
12661 c.-340A>G - NA - - - - Tao et al, 2007
12662 c.-340A>G - NA - - - - Tao et al, 2007
12663 c.-340A>G - NA - - - - Tao et al, 2007
12664 c.-340A>G - NA - - - - Tao et al, 2007
12665 c.-340A>G - NA - - - - Tao et al, 2007
12666 c.-340A>G - NA - - - - Tao et al, 2007
12667 c.-340A>G - NA - - - - Tao et al, 2007
12668 c.-340A>G - NA - - - - Tao et al, 2007
12669 c.-340A>G - NA - - - - Tao et al, 2007
12670 c.-340A>G - NA - - - - Tao et al, 2007
12672 c.-340A>G - NA - - - - Tao et al, 2007
12673 c.-340A>G - NA - - - - Tao et al, 2007
12674 c.-340A>G - NA - - - - Tao et al, 2007
12675 c.-340A>G - NA - - - - Tao et al, 2007
12676 c.-340A>G - NA - - - - Tao et al, 2007
12677 c.-340A>G - NA - - - - Tao et al, 2007
12678 c.-340A>G - NA - - - - Tao et al, 2007
12679 c.-340A>G - NA - - - - Tao et al, 2007
12680 c.-340A>G - NA - - - - Tao et al, 2007
12681 c.-340A>G - NA - - - - Tao et al, 2007
12682 c.-340A>G - NA - - - - Tao et al, 2007
12683 c.-340A>G - NA - - - - Tao et al, 2007
12684 c.-340A>G - NA - - - - Tao et al, 2007
12685 c.-340A>G - NA - - - - Tao et al, 2007
12686 c.-340A>G - NA - - - - Tao et al, 2007
12687 c.-340A>G - NA - - - - Tao et al, 2007
12688 c.-340A>G - NA - - - - Tao et al, 2007
12689 c.-340A>G - NA - - - - Tao et al, 2007
12690 c.-340A>G - NA - - - - Tao et al, 2007
12691 c.-340A>G - NA - - - - Tao et al, 2007
12692 c.-340A>G - NA - - - - Tao et al, 2007
12693 c.-340A>G - NA - - - - Tao et al, 2007
12694 c.-340A>G - NA - - - - Tao et al, 2007
12695 c.-340A>G - NA - - - - Tao et al, 2007
12696 c.-340A>G - NA - - - - Tao et al, 2007
12697 c.-340A>G - NA - - - - Tao et al, 2007
12698 c.-340A>G - NA - - - - Tao et al, 2007
12699 c.-340A>G - NA - - - - Tao et al, 2007
12700 c.-340A>G - NA - - - - Tao et al, 2007
12701 c.-340A>G - NA - - - - Tao et al, 2007
12702 c.-340A>G - NA - - - - Tao et al, 2007
12703 c.-340A>G - NA - - - - Tao et al, 2007
12704 c.-340A>G - NA - - - - Tao et al, 2007
12705 c.-340A>G - NA - - - - Tao et al, 2007
12706 c.-340A>G - NA - - - - Tao et al, 2007
12707 c.-340A>G - NA - - - - Tao et al, 2007
12708 c.-340A>G - NA - - - - Tao et al, 2007
12709 c.-340A>G - NA - - - - Tao et al, 2007
12710 c.-340A>G - NA - - - - Tao et al, 2007
12711 c.-340A>G - NA - - - - Tao et al, 2007
12712 c.-340A>G - NA - - - - Tao et al, 2007
12713 c.-340A>G - NA - - - - Tao et al, 2007
12714 c.-340A>G - NA - - - - Tao et al, 2007
12715 c.-340A>G - NA - - - - Tao et al, 2007
12716 c.-340A>G - NA - - - - Tao et al, 2007
12717 c.-340A>G - NA - - - - Tao et al, 2007
12718 c.-340A>G - NA - - - - Tao et al, 2007
12719 c.-340A>G - NA - - - - Tao et al, 2007
12720 c.-340A>G - NA - - - - Tao et al, 2007
12722 c.-99G>C - NA - - - - Tao et al, 2007
12723 c.-99G>C - NA - - - - Tao et al, 2007
12724 c.-99G>C - NA - - - - Tao et al, 2007
12725 c.-99G>C - NA - - - - Tao et al, 2007
12726 c.-99G>C - NA - - - - Tao et al, 2007
12727 c.-99G>C - NA - - - - Tao et al, 2007
12728 c.-99G>C - NA - - - - Tao et al, 2007
12729 c.-99G>C - NA - - - - Tao et al, 2007
12730 c.-99G>C - NA - - - - Tao et al, 2007
12731 c.-99G>C - NA - - - - Tao et al, 2007
12732 c.-99G>C - NA - - - - Tao et al, 2007
12733 c.-99G>C - NA - - - - Tao et al, 2007
12734 c.-99G>C - NA - - - - Tao et al, 2007
12735 c.-99G>C - NA - - - - Tao et al, 2007
12736 c.-99G>C - NA - - - - Tao et al, 2007
12737 c.-99G>C - NA - - - - Tao et al, 2007
12738 c.-99G>C - NA - - - - Tao et al, 2007
12739 c.-99G>C - NA - - - - Tao et al, 2007
12740 c.-99G>C - NA - - - - Tao et al, 2007
12741 c.-99G>C - NA - - - - Tao et al, 2007
12742 c.-99G>C - NA - - - - Tao et al, 2007
12743 c.-99G>C - NA - - - - Tao et al, 2007
12744 c.-99G>C - NA - - - - Tao et al, 2007
12745 c.-99G>C - NA - - - - Tao et al, 2007
12746 c.-99G>C - NA - - - - Tao et al, 2007
12747 c.-99G>C - NA - - - - Tao et al, 2007
12748 c.-99G>C - NA - - - - Tao et al, 2007
12749 c.-99G>C - NA - - - - Tao et al, 2007
12750 c.-99G>C - NA - - - - Tao et al, 2007
12751 c.-99G>C - NA - - - - Tao et al, 2007
12752 c.-99G>C - NA - - - - Tao et al, 2007
12753 c.-99G>C - NA - - - - Tao et al, 2007
12754 c.-99G>C - NA - - - - Tao et al, 2007
12755 c.-99G>C - NA - - - - Tao et al, 2007
12756 c.-99G>C - NA - - - - Tao et al, 2007
12757 c.-99G>C - NA - - - - Tao et al, 2007
12758 c.-99G>C - NA - - - - Tao et al, 2007
12759 c.-99G>C - NA - - - - Tao et al, 2007
12760 c.-99G>C - NA - - - - Tao et al, 2007
12761 c.-99G>C - NA - - - - Tao et al, 2007
12762 c.-99G>C - NA - - - - Tao et al, 2007
12763 c.-99G>C - NA - - - - Tao et al, 2007
12764 c.-99G>C - NA - - - - Tao et al, 2007
12765 c.-99G>C - NA - - - - Tao et al, 2007
12766 c.-99G>C - NA - - - - Tao et al, 2007
12767 c.-99G>C - NA - - - - Tao et al, 2007
12768 c.-99G>C - NA - - - - Tao et al, 2007
12769 c.-99G>C - NA - - - - Tao et al, 2007
12770 c.-99G>C - NA - - - - Tao et al, 2007
12771 c.-99G>C - NA - - - - Tao et al, 2007
12772 c.-99G>C - NA - - - - Tao et al, 2007
12773 c.-99G>C - NA - - - - Tao et al, 2007
12774 c.-99G>C - NA - - - - Tao et al, 2007
12775 c.-99G>C - NA - - - - Tao et al, 2007
12776 c.-99G>C - NA - - - - Tao et al, 2007
12777 c.-99G>C - NA - - - - Tao et al, 2007
12778 c.-99G>C - NA - - - - Tao et al, 2007
12779 c.-99G>C - NA - - - - Tao et al, 2007
12780 c.-99G>C - NA - - - - Tao et al, 2007
12781 c.-99G>C - NA - - - - Tao et al, 2007
12782 c.-99G>C - NA - - - - Tao et al, 2007
12783 c.-99G>C - NA - - - - Tao et al, 2007
12784 c.-99G>C - NA - - - - Tao et al, 2007
12785 c.-99G>C - NA - - - - Tao et al, 2007
12786 c.-99G>C - NA - - - - Tao et al, 2007
12787 c.-99G>C - NA - - - - Tao et al, 2007
12788 c.-99G>C - NA - - - - Tao et al, 2007
12789 c.-99G>C - NA - - - - Tao et al, 2007
12790 c.-99G>C - NA - - - - Tao et al, 2007
12791 c.-99G>C - NA - - - - Tao et al, 2007
12792 c.-99G>C - NA - - - - Tao et al, 2007
12793 c.-99G>C - NA - - - - Tao et al, 2007
12794 c.-99G>C - NA - - - - Tao et al, 2007
12795 c.-99G>C - NA - - - - Tao et al, 2007
12796 c.-99G>C - NA - - - - Tao et al, 2007
12797 c.-99G>C - NA - - - - Tao et al, 2007
12798 c.-99G>C - NA - - - - Tao et al, 2007
12799 c.-99G>C - NA - - - - Tao et al, 2007
12800 c.-99G>C - NA - - - - Tao et al, 2007
12801 c.-99G>C - NA - - - - Tao et al, 2007
12802 c.-99G>C - NA - - - - Tao et al, 2007
12803 c.-99G>C - NA - - - - Tao et al, 2007
12804 c.-99G>C - NA - - - - Tao et al, 2007
12805 c.-99G>C - NA - - - - Tao et al, 2007
12806 c.-99G>C - NA - - - - Tao et al, 2007
12807 c.-99G>C - NA - - - - Tao et al, 2007
12808 c.-99G>C - NA - - - - Tao et al, 2007
12809 c.-99G>C - NA - - - - Tao et al, 2007
12810 c.-99G>C - NA - - - - Tao et al, 2007
12811 c.-99G>C - NA - - - - Tao et al, 2007
12812 c.-99G>C - NA - - - - Tao et al, 2007
12813 c.-99G>C - NA - - - - Tao et al, 2007
12814 c.-99G>C - NA - - - - Tao et al, 2007
12815 c.-99G>C - NA - - - - Tao et al, 2007
12816 c.-99G>C - NA - - - - Tao et al, 2007
12817 c.-99G>C - NA - - - - Tao et al, 2007
12818 c.-99G>C - NA - - - - Tao et al, 2007
12819 c.-99G>C - NA - - - - Tao et al, 2007
12820 c.-99G>C - NA - - - - Tao et al, 2007
12821 c.-99G>C - NA - - - - Tao et al, 2007
12822 c.-99G>C - NA - - - - Tao et al, 2007
12823 c.-99G>C - NA - - - - Tao et al, 2007
12824 c.-99G>C - NA - - - - Tao et al, 2007
12826 c.90T>C - p.= - - - - Tao et al, 2007
12827 c.90T>C - p.= - - - - Tao et al, 2007
12828 c.90T>C - p.= - - - - Tao et al, 2007
12829 c.90T>C - p.= - - - - Tao et al, 2007
12830 c.90T>C - p.= - - - - Tao et al, 2007
12831 c.90T>C - p.= - - - - Tao et al, 2007
12832 c.90T>C - p.= - - - - Tao et al, 2007
12833 c.90T>C - p.= - - - - Tao et al, 2007
12834 c.90T>C - p.= - - - - Tao et al, 2007
12835 c.90T>C - p.= - - - - Tao et al, 2007
12836 c.90T>C - p.= - - - - Tao et al, 2007
12837 c.90T>C - p.= - - - - Tao et al, 2007
12838 c.90T>C - p.= - - - - Tao et al, 2007
12839 c.90T>C - p.= - - - - Tao et al, 2007
12840 c.90T>C - p.= - - - - Tao et al, 2007
12841 c.90T>C - p.= - - - - Tao et al, 2007
12842 c.90T>C - p.= - - - - Tao et al, 2007
12843 c.90T>C - p.= - - - - Tao et al, 2007
12844 c.90T>C - p.= - - - - Tao et al, 2007
12845 c.90T>C - p.= - - - - Tao et al, 2007
12846 c.90T>C - p.= - - - - Tao et al, 2007
12847 c.90T>C - p.= - - - - Tao et al, 2007
12848 c.90T>C - p.= - - - - Tao et al, 2007
12849 c.90T>C - p.= - - - - Tao et al, 2007
12850 c.90T>C - p.= - - - - Tao et al, 2007
12851 c.90T>C - p.= - - - - Tao et al, 2007
12852 c.90T>C - p.= - - - - Tao et al, 2007
12853 c.90T>C - p.= - - - - Tao et al, 2007
12854 c.90T>C - p.= - - - - Tao et al, 2007
12855 c.90T>C - p.= - - - - Tao et al, 2007
12856 c.90T>C - p.= - - - - Tao et al, 2007
12857 c.90T>C - p.= - - - - Tao et al, 2007
12858 c.90T>C - p.= - - - - Tao et al, 2007
12859 c.90T>C - p.= - - - - Tao et al, 2007
12860 c.90T>C - p.= - - - - Tao et al, 2007
12861 c.90T>C - p.= - - - - Tao et al, 2007
12862 c.90T>C - p.= - - - - Tao et al, 2007
12863 c.90T>C - p.= - - - - Tao et al, 2007
12864 c.90T>C - p.= - - - - Tao et al, 2007
12865 c.90T>C - p.= - - - - Tao et al, 2007
12866 c.90T>C - p.= - - - - Tao et al, 2007
12867 c.90T>C - p.= - - - - Tao et al, 2007
12868 c.90T>C - p.= - - - - Tao et al, 2007
12869 c.90T>C - p.= - - - - Tao et al, 2007
12870 c.90T>C - p.= - - - - Tao et al, 2007
12871 c.90T>C - p.= - - - - Tao et al, 2007
12872 c.90T>C - p.= - - - - Tao et al, 2007
12873 c.90T>C - p.= - - - - Tao et al, 2007
12874 c.90T>C - p.= - - - - Tao et al, 2007
12875 c.90T>C - p.= - - - - Tao et al, 2007
12876 c.90T>C - p.= - - - - Tao et al, 2007
12877 c.90T>C - p.= - - - - Tao et al, 2007
12878 c.90T>C - p.= - - - - Tao et al, 2007
12879 c.90T>C - p.= - - - - Tao et al, 2007
12880 c.90T>C - p.= - - - - Tao et al, 2007
12881 c.90T>C - p.= - - - - Tao et al, 2007
12882 c.90T>C - p.= - - - - Tao et al, 2007
12883 c.90T>C - p.= - - - - Tao et al, 2007
12884 c.90T>C - p.= - - - - Tao et al, 2007
12885 c.90T>C - p.= - - - - Tao et al, 2007
12886 c.90T>C - p.= - - - - Tao et al, 2007
12887 c.90T>C - p.= - - - - Tao et al, 2007
12888 c.90T>C - p.= - - - - Tao et al, 2007
12889 c.90T>C - p.= - - - - Tao et al, 2007
12890 c.90T>C - p.= - - - - Tao et al, 2007
12891 c.90T>C - p.= - - - - Tao et al, 2007
12892 c.90T>C - p.= - - - - Tao et al, 2007
12893 c.90T>C - p.= - - - - Tao et al, 2007
12894 c.90T>C - p.= - - - - Tao et al, 2007
12895 c.90T>C - p.= - - - - Tao et al, 2007
12896 c.90T>C - p.= - - - - Tao et al, 2007
12897 c.90T>C - p.= - - - - Tao et al, 2007
12898 c.90T>C - p.= - - - - Tao et al, 2007
12899 c.90T>C - p.= - - - - Tao et al, 2007
12900 c.90T>C - p.= - - - - Tao et al, 2007
12901 c.90T>C - p.= - - - - Tao et al, 2007
12902 c.90T>C - p.= - - - - Tao et al, 2007
12903 c.90T>C - p.= - - - - Tao et al, 2007
12904 c.90T>C - p.= - - - - Tao et al, 2007
12905 c.90T>C - p.= - - - - Tao et al, 2007
12906 c.90T>C - p.= - - - - Tao et al, 2007
12907 c.90T>C - p.= - - - - Tao et al, 2007
12908 c.90T>C - p.= - - - - Tao et al, 2007
12909 c.90T>C - p.= - - - - Tao et al, 2007
12910 c.90T>C - p.= - - - - Tao et al, 2007
12912 c.471C>T - p.= - - - - Tao et al, 2007
12913 c.471C>T - p.= - - - - Tao et al, 2007
12914 c.471C>T - p.= - - - - Tao et al, 2007
12915 c.471C>T - p.= - - - - Tao et al, 2007
12916 c.471C>T - p.= - - - - Tao et al, 2007
12917 c.471C>T - p.= - - - - Tao et al, 2007
12918 c.471C>T - p.= - - - - Tao et al, 2007
12919 c.471C>T - p.= - - - - Tao et al, 2007
12920 c.471C>T - p.= - - - - Tao et al, 2007
12921 c.471C>T - p.= - - - - Tao et al, 2007
12922 c.471C>T - p.= - - - - Tao et al, 2007
12923 c.471C>T - p.= - - - - Tao et al, 2007
12924 c.471C>T - p.= - - - - Tao et al, 2007
12925 c.471C>T - p.= - - - - Tao et al, 2007
12926 c.471C>T - p.= - - - - Tao et al, 2007
12927 c.471C>T - p.= - - - - Tao et al, 2007
12928 c.471C>T - p.= - - - - Tao et al, 2007
12929 c.471C>T - p.= - - - - Tao et al, 2007
12930 c.471C>T - p.= - - - - Tao et al, 2007
12931 c.471C>T - p.= - - - - Tao et al, 2007
12932 c.471C>T - p.= - - - - Tao et al, 2007
12933 c.471C>T - p.= - - - - Tao et al, 2007
12934 c.471C>T - p.= - - - - Tao et al, 2007
12935 c.471C>T - p.= - - - - Tao et al, 2007
12936 c.471C>T - p.= - - - - Tao et al, 2007
12937 c.471C>T - p.= - - - - Tao et al, 2007
12938 c.471C>T - p.= - - - - Tao et al, 2007
12939 c.471C>T - p.= - - - - Tao et al, 2007
12940 c.471C>T - p.= - - - - Tao et al, 2007
12941 c.471C>T - p.= - - - - Tao et al, 2007
12942 c.471C>T - p.= - - - - Tao et al, 2007
12943 c.471C>T - p.= - - - - Tao et al, 2007
12944 c.471C>T - p.= - - - - Tao et al, 2007
12945 c.471C>T - p.= - - - - Tao et al, 2007
12946 c.471C>T - p.= - - - - Tao et al, 2007
12947 c.471C>T - p.= - - - - Tao et al, 2007
12948 c.471C>T - p.= - - - - Tao et al, 2007
12949 c.471C>T - p.= - - - - Tao et al, 2007
12950 c.471C>T - p.= - - - - Tao et al, 2007
12951 c.471C>T - p.= - - - - Tao et al, 2007
12952 c.471C>T - p.= - - - - Tao et al, 2007
12953 c.471C>T - p.= - - - - Tao et al, 2007
12954 c.471C>T - p.= - - - - Tao et al, 2007
12955 c.471C>T - p.= - - - - Tao et al, 2007
12956 c.471C>T - p.= - - - - Tao et al, 2007
12957 c.471C>T - p.= - - - - Tao et al, 2007
12958 c.471C>T - p.= - - - - Tao et al, 2007
12959 c.471C>T - p.= - - - - Tao et al, 2007
12960 c.471C>T - p.= - - - - Tao et al, 2007
12961 c.471C>T - p.= - - - - Tao et al, 2007
12962 c.471C>T - p.= - - - - Tao et al, 2007
12963 c.471C>T - p.= - - - - Tao et al, 2007
12964 c.471C>T - p.= - - - - Tao et al, 2007
12965 c.471C>T - p.= - - - - Tao et al, 2007
12966 c.471C>T - p.= - - - - Tao et al, 2007
12967 c.471C>T - p.= - - - - Tao et al, 2007
12968 c.471C>T - p.= - - - - Tao et al, 2007
12969 c.471C>T - p.= - - - - Tao et al, 2007
12970 c.471C>T - p.= - - - - Tao et al, 2007
12971 c.471C>T - p.= - - - - Tao et al, 2007
12972 c.471C>T - p.= - - - - Tao et al, 2007
12973 c.471C>T - p.= - - - - Tao et al, 2007
12974 c.471C>T - p.= - - - - Tao et al, 2007
12975 c.471C>T - p.= - - - - Tao et al, 2007
12976 c.471C>T - p.= - - - - Tao et al, 2007
12977 c.471C>T - p.= - - - - Tao et al, 2007
12978 c.471C>T - p.= - - - - Tao et al, 2007
12979 c.471C>T - p.= - - - - Tao et al, 2007
12980 c.471C>T - p.= - - - - Tao et al, 2007
12981 c.471C>T - p.= - - - - Tao et al, 2007
12982 c.471C>T - p.= - - - - Tao et al, 2007
12983 c.471C>T - p.= - - - - Tao et al, 2007
12985 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12986 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12987 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12988 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12989 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12990 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12991 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12992 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12993 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12994 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12995 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12996 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12997 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12998 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
12999 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13000 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13001 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13002 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13003 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13004 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13005 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13006 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13007 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13008 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13009 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13010 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13011 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13012 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13013 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13014 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13015 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13016 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13017 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13018 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13019 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13020 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13021 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13022 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13023 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13024 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13025 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13026 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13027 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13028 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13029 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13030 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13031 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13032 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13033 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13034 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13035 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13036 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13037 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13038 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13039 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13040 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13041 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13042 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13043 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13044 c.179G>C - p.Gly60Ala - - - - Tao et al, 2007
13817 c.685G>A Substitution p.Val229Met Substitution - Italian - Zhong et al, 2009
13819 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13820 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13821 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13822 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13823 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13824 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13825 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13826 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13827 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13828 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13829 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13830 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13831 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13832 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13833 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13834 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13835 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13836 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13837 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13838 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13839 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13840 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13841 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13842 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13843 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13844 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13845 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13846 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13847 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13848 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13849 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13850 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13851 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13852 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13853 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13854 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13855 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13856 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13857 c.179C>G Substitution p.Ala60Gly Substitution - Italian - Zhong et al, 2009
13859 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13860 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13861 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13862 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13863 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13864 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13865 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13866 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13867 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13868 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13869 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13870 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13871 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13872 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13873 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13874 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13875 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13876 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13877 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13878 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13879 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13880 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13881 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13882 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13883 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13884 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13885 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13886 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13887 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13888 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13889 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13890 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13891 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13892 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13893 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13894 c.90C>T Substitution p.= Silent - Italian - Zhong et al, 2009
13896 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13897 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13898 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13899 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13900 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13901 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13902 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13903 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13904 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13905 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13906 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13907 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13908 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13909 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13910 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13911 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13912 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13913 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13914 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13915 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13916 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13917 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13918 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13919 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13920 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13921 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13922 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13923 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13924 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13925 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13926 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13927 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13928 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13929 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13930 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13931 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13932 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13933 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13934 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13935 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13936 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13937 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13938 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13939 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13940 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13941 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13942 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13943 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13944 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13945 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13946 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13947 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13948 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13949 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13950 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13951 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13952 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13953 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13954 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13955 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13956 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13957 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13958 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13959 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13960 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13961 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13962 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13963 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13964 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13965 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13966 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13967 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13968 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13969 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13970 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13971 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13972 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13973 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13974 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13975 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13976 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13977 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13978 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13979 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13980 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13981 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13982 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13983 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13984 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13985 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13986 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13987 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13988 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13989 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13990 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13991 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13992 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13993 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13994 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13996 c.471T>C Substitution p.= Silent - Italian - Zhong et al, 2009
13999 c.552C>T Substitution p.= Silent - Italian - Zhong et al, 2009
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