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2024-04-16 20:38:19, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_001005337            5384 bp    mRNA    linear   PRI 16-JUN-2013
DEFINITION  Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility
            syndrome) (PKP1), transcript variant 1a, mRNA.
ACCESSION   NM_001005337
VERSION     NM_001005337.2  GI:300068949
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5384)
  AUTHORS   Demirag,G.G., Sullu,Y. and Yucel,I.
  TITLE     Expression of Plakophilins (PKP1, PKP2, and PKP3) in breast cancers
  JOURNAL   Med. Oncol. 29 (3), 1518-1522 (2012)
   PUBMED   21947748
  REMARK    GeneRIF: In breast cancer, compared with normal tissue, PKP1 and
            PKP2 expressions were indifferent (P > 0.05), but PKP3 expression
            was significantly increased
REFERENCE   2  (bases 1 to 5384)
  AUTHORS   Kaz,A.M., Luo,Y., Dzieciatkowski,S., Chak,A., Willis,J.E.,
            Upton,M.P., Leidner,R.S. and Grady,W.M.
  TITLE     Aberrantly methylated PKP1 in the progression of Barrett's
            esophagus to esophageal adenocarcinoma
  JOURNAL   Genes Chromosomes Cancer 51 (4), 384-393 (2012)
   PUBMED   22170739
  REMARK    GeneRIF: PKP1 loss secondary to promoter methylation, as well as
            other mechanisms, may promote the progression of Barrett's
            esophagus to esophageal adenocarcinoma in a subset of patients via
            decreased desmosome assembly and increased cell motility
REFERENCE   3  (bases 1 to 5384)
  AUTHORS   Sobolik-Delmaire,T., Reddy,R., Pashaj,A., Roberts,B.J. and
            Wahl,J.K. III.
  TITLE     Plakophilin-1 localizes to the nucleus and interacts with
            single-stranded DNA
  JOURNAL   J. Invest. Dermatol. 130 (11), 2638-2646 (2010)
   PUBMED   20613778
  REMARK    GeneRIF: in addition to mediating desmosome assembly, the nuclear
            pool of Pkp can influence cell survival by interactions with DNA
REFERENCE   4  (bases 1 to 5384)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   5  (bases 1 to 5384)
  AUTHORS   Jugessur,A., Shi,M., Gjessing,H.K., Lie,R.T., Wilcox,A.J.,
            Weinberg,C.R., Christensen,K., Boyles,A.L., Daack-Hirsch,S.,
            Nguyen,T.T., Christiansen,L., Lidral,A.C. and Murray,J.C.
  TITLE     Maternal genes and facial clefts in offspring: a comprehensive
            search for genetic associations in two population-based cleft
            studies from Scandinavia
  JOURNAL   PLoS ONE 5 (7), E11493 (2010)
   PUBMED   20634891
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 5384)
  AUTHORS   Schmidt,A., Langbein,L., Rode,M., Pratzel,S., Zimbelmann,R. and
            Franke,W.W.
  TITLE     Plakophilins 1a and 1b: widespread nuclear proteins recruited in
            specific epithelial cells as desmosomal plaque components
  JOURNAL   Cell Tissue Res. 290 (3), 481-499 (1997)
   PUBMED   9369526
REFERENCE   7  (bases 1 to 5384)
  AUTHORS   McGrath,J.A., McMillan,J.R., Shemanko,C.S., Runswick,S.K.,
            Leigh,I.M., Lane,E.B., Garrod,D.R. and Eady,R.A.
  TITLE     Mutations in the plakophilin 1 gene result in ectodermal
            dysplasia/skin fragility syndrome
  JOURNAL   Nat. Genet. 17 (2), 240-244 (1997)
   PUBMED   9326952
REFERENCE   8  (bases 1 to 5384)
  AUTHORS   Cowley,C.M., Simrak,D., Spurr,N.K., Arnemann,J. and Buxton,R.S.
  TITLE     The plakophilin 1 (PKP1) and plakoglobin (JUP) genes map to human
            chromosomes 1q and 17, respectively
  JOURNAL   Hum. Genet. 100 (3-4), 486-488 (1997)
   PUBMED   9272178
REFERENCE   9  (bases 1 to 5384)
  AUTHORS   Heid,H.W., Schmidt,A., Zimbelmann,R., Schafer,S.,
            Winter-Simanowski,S., Stumpp,S., Keith,M., Figge,U., Schnolzer,M.
            and Franke,W.W.
  TITLE     Cell type-specific desmosomal plaque proteins of the plakoglobin
            family: plakophilin 1 (band 6 protein)
  JOURNAL   Differentiation 58 (2), 113-131 (1994)
   PUBMED   7890138
REFERENCE   10 (bases 1 to 5384)
  AUTHORS   Hatzfeld,M., Kristjansson,G.I., Plessmann,U. and Weber,K.
  TITLE     Band 6 protein, a major constituent of desmosomes from stratified
            epithelia, is a novel member of the armadillo multigene family
  JOURNAL   J. Cell. Sci. 107 (PT 8), 2259-2270 (1994)
   PUBMED   7527055
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z34974.1 and AC119427.3.
            On Jul 2, 2010 this sequence version replaced gi:53729343.
            
            Summary: This gene encodes a member of the arm-repeat (armadillo)
            and plakophilin gene families. Plakophilin proteins contain
            numerous armadillo repeats, localize to cell desmosomes and nuclei,
            and participate in linking cadherins to intermediate filaments in
            the cytoskeleton. This protein may be involved in molecular
            recruitment and stabilization during desmosome formation. Mutations
            in this gene have been associated with the ectodermal
            dysplasia/skin fragility syndrome. Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Jul 2010].
            
            Transcript Variant: This variant (1a) represents the shorter
            transcript variant as compared to variant 1b.  It encodes the
            shorter protein (isoform 1a), compared to isoform 1b.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: Z34974.1, BC114571.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           ERS025081, ERS025084 [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-121               Z34974.1           2-122
            122-122             AC119427.3         36591-36591
            123-2679            Z34974.1           124-2680
            2680-5384           AC119427.3         83307-86011
FEATURES             Location/Qualifiers
     source          1..5384
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32"
     gene            1..5384
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="plakophilin 1 (ectodermal dysplasia/skin fragility
                     syndrome)"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:9023"
                     /db_xref="MIM:601975"
     exon            1..453
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       122
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:861275"
     variation       136
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:149821471"
     variation       166
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:117651274"
     misc_feature    216..218
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="upstream in-frame stop codon"
     variation       221
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:199756966"
     variation       232
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:368748415"
     variation       241
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377338146"
     variation       243
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:34961064"
     variation       248
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:373547864"
     variation       249
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113017151"
     CDS             252..2432
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="isoform 1a is encoded by transcript variant 1a;
                     band 6 protein"
                     /codon_start=1
                     /product="plakophilin-1 isoform 1a"
                     /protein_id="NP_001005337.1"
                     /db_xref="GI:53729344"
                     /db_xref="CCDS:CCDS30967.1"
                     /db_xref="GeneID:5317"
                     /db_xref="HGNC:9023"
                     /db_xref="MIM:601975"
                     /translation="
MNHSPLKTALAYECFQDQDNSTLALPSDQKMKTGTSGRQRVQEQVMMTVKRQKSKSSQSSTLSHSNRGSMYDGLADNYNYGTTSRSSYYSKFQAGNGSWGYPIYNGTLKREPDNRRFSSYSQMENWSRHYPRGSCNTTGAGSDICFMQKIKASRSEPDLYCDPRGTLRKGTLGSKGQKTTQNRYSFYSTCSGQKAIKKCPVRPPSCASKQDPVYIPPISCNKDLSFGHSRASSKICSEDIECSGLTIPKAVQYLSSQDEKYQAIGAYYIQHTCFQDESAKQQVYQLGGICKLVDLLRSPNQNVQQAAAGALRNLVFRSTTNKLETRRQNGIREAVSLLRRTGNAEIQKQLTGLLWNLSSTDELKEELIADALPVLADRVIIPFSGWCDGNSNMSREVVDPEVFFNATGCLRNLSSADAGRQTMRNYSGLIDSLMAYVQNCVAASRCDDKSVENCMCVLHNLSYRLDAEVPTRYRQLEYNARNAYTEKSSTGCFSNKSDKMMNNNYDCPLPEEETNPKGSGWLYHSDAIRTYLNLMGKSKKDATLEACAGALQNLTASKGLMSSGMSQLIGLKEKGLPQIARLLQSGNSDVVRSGASLLSNMSRHPLLHRVMGNQVFPEVTRLLTSHTGNTSNSEDILSSACYTVRNLMASQPQLAKQYFSSSMLNNIINLCRSSASPKAAEAARLLLSDMWSSKELQGVLRQQGFDRNMLGTLAGANSLRNFTSRF
"
     misc_feature    891..893
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    990..1328
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(1038..1040,1050..1052,1062..1064,1155..1157,
                     1167..1169,1176..1178,1188..1190,1296..1298,1305..1307,
                     1314..1319,1326..1328)
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     misc_feature    1683..1685
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /experiment="experimental evidence, no additional details
                     recorded"
                     /note="phosphorylation site"
     misc_feature    1812..2198
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="Armadillo/beta-catenin-like repeats. An
                     approximately 40 amino acid long tandemly repeated
                     sequence motif first identified in the Drosophila segment
                     polarity gene armadillo; these repeats were also found in
                     the mammalian armadillo homolog beta-catenin; Region: ARM;
                     cd00020"
                     /db_xref="CDD:28904"
     misc_feature    order(1884..1886,1896..1898,1908..1910,2016..2018,
                     2028..2030,2037..2039,2049..2051,2166..2168,2175..2177,
                     2184..2189,2196..2198)
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /note="protein binding surface [polypeptide binding];
                     other site"
                     /db_xref="CDD:28904"
     variation       287
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:2268147"
     variation       310
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199604952"
     variation       328
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377481646"
     variation       342
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370900946"
     variation       361
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:113410388"
     variation       365
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:375084708"
     variation       387
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:369806569"
     variation       402
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181972441"
     variation       405
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200433412"
     variation       409
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199797410"
     exon            454..557
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       476
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:141484211"
     variation       481
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150847034"
     variation       492
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147328328"
     variation       514
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141060367"
     variation       523
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:146997188"
     variation       542
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:142121267"
     variation       545
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:111264274"
     variation       556
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367643085"
     variation       557
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:140908060"
     exon            558..952
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       580
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150161614"
     variation       595
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147062963"
     variation       596
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:138354987"
     variation       598
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34626929"
     variation       637
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369088645"
     variation       640
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371948391"
     variation       646
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376443293"
     variation       666
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200423351"
     variation       668
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374045033"
     variation       669
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:77893096"
     variation       683
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:139245064"
     variation       704
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:149029415"
     variation       711
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151214763"
     variation       726
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:367893541"
     variation       733
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34704938"
     variation       742
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143927870"
     variation       754
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200647803"
     variation       755
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199990009"
     variation       785
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201942649"
     variation       795
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:148156855"
     variation       830
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:34769677"
     variation       837
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:35507614"
     variation       851
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:368028956"
     variation       855
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:144063217"
     variation       856
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:78314242"
     variation       858
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371876880"
     variation       860
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:148914791"
     variation       899
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200419666"
     variation       930
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373022722"
     exon            953..1097
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       971
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201629569"
     variation       980
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:375931616"
     variation       984
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:7514146"
     variation       1001
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201749145"
     variation       1025
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375835333"
     variation       1030
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:142131454"
     variation       1031
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1779297"
     variation       1042
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369999615"
     variation       1061
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376127281"
     variation       1077
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:191741262"
     exon            1098..1305
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1127
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143587802"
     variation       1134
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:150414253"
     variation       1140
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:368718493"
     variation       1157
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190053583"
     variation       1158
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143092948"
     variation       1161
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:121918354"
     variation       1169
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1722779"
     variation       1170
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142112484"
     variation       1196
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200097129"
     variation       1232
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139437589"
     variation       1247
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147633517"
     variation       1259
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148303000"
     variation       1263
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12562244"
     variation       1274
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371394152"
     variation       1275
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:375682551"
     variation       1280
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:368398439"
     exon            1306..1483
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1353
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142169193"
     variation       1358
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201842614"
     variation       1359
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:180970899"
     variation       1365
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:367927398"
     variation       1367
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:371461061"
     variation       1380
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:145561852"
     variation       1383
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200975137"
     variation       1385
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148096263"
     variation       1412
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375745566"
     variation       1413
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141184851"
     variation       1434
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369928249"
     variation       1435
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373286108"
     variation       1451
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375406840"
     variation       1463
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200023228"
     exon            1484..1598
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1488
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370631788"
     variation       1490
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142220495"
     variation       1495
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:151203492"
     variation       1499
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150013883"
     variation       1500
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:141222689"
     variation       1509
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146785756"
     variation       1511
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371224887"
     variation       1522
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376870836"
     variation       1576
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10920171"
     variation       1577
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:200173870"
     variation       1578
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:376318223"
     variation       1584
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:74136386"
     variation       1585
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:137968512"
     variation       1587
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:78672252"
     variation       1592
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:375542525"
     exon            1599..1754
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1604
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:376484047"
     variation       1625
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368961324"
     variation       1626
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:371151624"
     variation       1641
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:374293363"
     variation       1649
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:149333889"
     variation       1671
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148461275"
     variation       1689
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201459638"
     variation       1692
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:370789305"
     variation       1693
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:188436125"
     variation       1697
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:146580475"
     variation       1699
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201374321"
     variation       1702
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:199797105"
     exon            1755..1931
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1758
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143670888"
     variation       1782
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:371952348"
     variation       1808
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:150488138"
     variation       1809
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149193673"
     variation       1837
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:143362477"
     variation       1897
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:202228705"
     variation       1926
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:200486077"
     exon            1932..2085
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       1957
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:202232462"
     variation       1992
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:377328987"
     variation       1993
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:142096411"
     variation       1998
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:369918615"
     variation       2025
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138678921"
     variation       2051
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201145416"
     variation       2066
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138066192"
     exon            2086..2272
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       2102
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:374521427"
     variation       2133
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:373741646"
     variation       2146
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:200677178"
     variation       2159
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:201256516"
     variation       2194
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200736537"
     variation       2200
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200484616"
     variation       2234
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:199709077"
     variation       2266
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:139909774"
     exon            2273..2357
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       2284
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:146324118"
     variation       2301
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:61818256"
     variation       2309
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:148462731"
     variation       2313
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376796997"
     variation       2343
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142615612"
     variation       2344
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201628992"
     exon            2358..2464
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       2363
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:373661853"
     variation       2367
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:201180970"
     variation       2420
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:376113980"
     variation       2457
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:370739529"
     exon            2465..5384
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /inference="alignment:Splign:1.39.8"
     variation       2500
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:150757816"
     variation       2526
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:947374"
     variation       2583
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:79906867"
     variation       2624
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:114649649"
     variation       2652..2653
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:201366172"
     variation       2654
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:7541805"
     variation       2656
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:947375"
     variation       2730
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:184565243"
     variation       2733
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:947376"
     variation       2759
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188228781"
     variation       2767..2768
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="tg"
                     /db_xref="dbSNP:142978010"
     variation       2887
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:372822124"
     variation       3011
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:10920174"
     variation       3048
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:2365648"
     variation       3105
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:74504311"
     variation       3115
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1105331"
     variation       3141
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3795628"
     variation       3145
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:181019805"
     variation       3150
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:184294871"
     variation       3163
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:3795629"
     variation       3218
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:149894452"
     variation       3247
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:190014563"
     variation       3257
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:28602515"
     variation       3288
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1104755"
     variation       3296
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:61819986"
     variation       3328
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181273328"
     variation       3356
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:3795630"
     variation       3432
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="t"
                     /db_xref="dbSNP:111378582"
     variation       3464
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:147193741"
     variation       3488
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:186112428"
     variation       3508
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:6667284"
     variation       3580
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:140478008"
     variation       3716..3717
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="g"
                     /db_xref="dbSNP:35917356"
     variation       3737
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:188915730"
     variation       3784
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:368916010"
     variation       3980
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:181971047"
     variation       3987
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:12564605"
     variation       4084
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:147846879"
     variation       4105
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:10920175"
     variation       4121
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:10800772"
     variation       4139
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:370255022"
     variation       4162
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:186347223"
     variation       4226
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:111972864"
     variation       4244
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:149146601"
     variation       4316
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:17425876"
     variation       4374
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:12120834"
     variation       4560
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:142266525"
     variation       4631
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:374781187"
     variation       4670
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:369086799"
     variation       4794
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:77409791"
     variation       4800
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:191912888"
     variation       4937
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:61819987"
     variation       4947
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:151236820"
     variation       4959
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:12143423"
     variation       4974
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:58828153"
     variation       4975
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="c"
                     /db_xref="dbSNP:140498940"
     variation       5000..5001
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="cccccaccctga"
                     /db_xref="dbSNP:139473144"
     variation       5000
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:200445704"
     variation       5001..5002
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="cccccaccctga"
                     /db_xref="dbSNP:72276420"
     variation       5003..5004
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="ccaccctgaccc"
                     /replace="ccaccctgacct"
                     /db_xref="dbSNP:61710598"
     variation       5004..5005
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="ccaccctgaccc"
                     /db_xref="dbSNP:66960101"
     variation       5010
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:183009669"
     variation       5016
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:145675260"
     variation       5026
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:138426889"
     variation       5052..5053
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="a"
                     /db_xref="dbSNP:34347167"
     variation       5061
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="t"
                     /db_xref="dbSNP:1046941"
     variation       5136
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1046962"
     variation       5169
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="c"
                     /replace="g"
                     /db_xref="dbSNP:1046970"
     variation       5184
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:73074694"
     STS             5220..5319
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /standard_name="G34869"
                     /db_xref="UniSTS:74715"
     STS             5235..5384
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /standard_name="SHGC-34136"
                     /db_xref="UniSTS:1739"
     variation       5255..5256
                     /gene="PKP1"
                     /gene_synonym="B6P"
                     /replace=""
                     /replace="c"
                     /db_xref="dbSNP:34464854"
     polyA_signal    5356..5361
                     /gene="PKP1"
                     /gene_synonym="B6P"
     polyA_site      5384
                     /gene="PKP1"
                     /gene_synonym="B6P"
ORIGIN      
gggtggtgcagggcaggggtggtatatcctgtctgacggagggcgggcctcgccagtgccagagagggacgaaccagggtggaagcgccaggagcagctgcagggagccctcacgcggaccacgcactctatggccgtagggagccgctgagagcgagaagagcacgctcctgcccgcccgctgcaccgcacctcgcctcgcctctctgctctcctaggccccggccgcgcgccacccgcctcccgccaccatgaaccactcgccgctcaagaccgccttggcgtacgaatgcttccaggaccaggacaactccacgttggctttgccgtcggaccaaaagatgaaaacaggcacgtctggcaggcagcgcgtgcaggagcaggtgatgatgaccgtcaagcggcagaagtccaagtcttcccagtcgtccaccctgagccactccaatcgaggttccatgtatgatggcttggctgacaattacaactatgggaccaccagcaggagcagctactactccaagttccaggcagggaatggctcatggggatatccgatctacaatggaaccctcaagcgggagcctgacaacaggcgcttcagctcctacagccagatggagaactggagccggcactacccccggggcagctgtaacaccaccggcgcaggcagcgacatctgcttcatgcagaaaatcaaggcgagccgcagtgagcccgacctctactgtgacccacggggcaccctgcgcaagggcacgctgggcagcaagggccagaagaccacccagaaccgctacagcttttacagcacctgcagtggtcagaaggccataaagaagtgccctgtgcgcccgccctcttgtgcctccaagcaggaccctgtgtatatcccgcccatctcctgcaacaaggacctgtcctttggccactctagggccagctccaagatctgcagtgaggacatcgagtgcagtgggctgaccatccccaaggctgtgcagtacctgagctcccaggatgagaagtaccaggccattggggcctattacatccagcatacctgcttccaggatgaatctgccaagcaacaggtctatcagctgggaggcatctgcaagctggtggacctcctccgcagccccaaccagaacgtccagcaggccgcggcaggggccctgcgcaacctggtgttcaggagcaccaccaacaagctggagacccggaggcagaatgggatccgcgaggcagtcagcctcctgaggagaaccgggaacgccgagatccagaagcagctgactgggctgctctggaacctgtcttccactgacgagctgaaggaggaactcattgccgacgccctgcctgttctggccgaccgcgtcatcattcccttctctggctggtgcgatggcaatagcaacatgtcccgggaagtggtggaccctgaggtcttcttcaatgccacaggctgcttgaggaacctgagctcggccgatgcaggccgccagaccatgcgtaactactcagggctcattgattccctcatggcctatgtccagaactgtgtagcggccagccgctgtgacgacaagtctgtggaaaactgcatgtgtgttctgcacaacctctcctaccgcctggacgccgaggtgcccacccgctaccgccagctggagtataacgcccgcaacgcctacaccgagaagtcctccactggctgcttcagcaacaagagcgacaagatgatgaacaacaactatgactgccccctgcctgaggaagagaccaaccccaagggcagcggctggttgtaccattcagatgccatccgcacctacctgaacctcatgggcaagagcaagaaagatgctaccctggaggcctgtgctggtgccctgcagaacctgacagccagcaaggggctgatgtccagtggcatgagccagttgattgggctgaaggaaaagggcctgccacaaattgcccgcctcctgcaatctggcaactctgatgtggtgcggtccggagcctccctcctgagcaacatgtcccgccaccctctgctgcacagagtgatggggaaccaggtgttcccggaggtgaccaggctcctcaccagccacactggcaataccagcaactccgaagacatcttgtcctcggcctgctacactgtgaggaacctgatggcctcgcagccacaactggccaagcagtacttctccagcagcatgctcaacaacatcatcaacctgtgccgaagcagtgcctcacccaaggccgcagaagctgcccggcttctcctgtctgacatgtggtccagcaaggaactgcagggtgtcctcagacagcaaggtttcgataggaacatgctgggaaccttagctggggccaacagcctcaggaacttcacctcccgattctaagaagagactgtccaagcaagttaggcttgcaggaagatatgacccagctgagaagccctcaggcctcgctggatggggttttctgtccatcctgtgcagtatttgggaaagttcacaagaaactgagaagaaacctaaaaactgtggatagtggaaagatttttagattttttttttccttggggaaactggcaggcaatgggggttagggaggttggggcggggggggctttcttgagttaaaggggcttatatgtgatgtcaatatttcttcctctgagaaatggtatatatatgtgtataatgtaagtgtgtgcatgcatgtgcgcgtgcatgtgtgtgtgtgtgagtgtcttaaagcataaccacaaactgcaaaaagctaggtaagctattttgttgcagctcataaggtggtgaaaaggactctcctgtgtttcttactcataggcaaggacaacatgtgctttttggtgagctgctcataattcctgaaatgtgtggtgccagggcaagggggccatcactgcagtcaggccctcagaggagtcctgcaggcttcctaccagtggtctccaggggtgcaggagtaactggggctgggccagcctccccacttacaaggctgctttccaggaagggaggtctggtgtatctcatgggagaatctggggtgtctgtaatgtcacccctccagcagcgccacaaggactgaggttgggtaggtgtggggttccagaggacagcaggacactctcgcatactttgccaaatgaggcctgctcagaggagtaggagctgaaagatggtgccttccaccctcttgggctgtgtgcccatcagagcaggctcagcctgcaaaggccctgcattcagaggtcttgtaatctacttgttgcaggagaaagaaggtaaaaaatgatttttttaagaaaagctattttattgcagctctttcccaagagctgttctgggaatggctggtcttcatattcccagtggagaggggaacaagtggggctgggcatatacctattccggcttctagtgggatggagttggggtatagaaattaaccaggaagatgtttccaccaagcctgctgtgagtcaattgagggagtgtttggggtcccaggagacttggacggggggagtttgggtagactaggaaaggaaagtgccatatcagggtaccggtaccggcaagctcacatctcagccaggggccatgccccacttcccctgaccccagctgtcttgtctccactctgtgaaacccacaggggatgtgataaacagggctattaggggtatcagccacgtcgagcccccagactctgtgcacttcagaccagcagcagcaggagggctcccgagggccttatgagaaaacctgtgtggacatcccttggtgtacactaagacagagcagagcccagcgctcccaagccttcctccttccagcttctacctccatgctagcattgctggtgttagagaggaattaacttcctggtctgtgcccttctctagaagaatataagatgctcctcctcctcaccccttctcagcctcctcccaagtcttcctcttctgcaccacccccgagtccaaacccacctcttgccccagcattcaggctggaaaacactgatgtggactcagtatgataactgagatgggggacgccagacatgtgaggacgctgtcctccgagaggtgtccccggctgttagccagctgtgctgtggtgctgtgggtctgtcataccctcccttgcttctgttcacactgggaggcccactcctggctcacctctccctctcagggacccacgtgggagcctggatccctggactgtcctgggcataggtttcaggggcctcctttgttgtcatcagaacccagaggaattcttctcctaaaaaatacgtatggcataccaatctgtgcggggcagtgtcctaagcacttagactacatcagggaagaacacagaccacatccctgtcctcatgcggcttatgttttctggaggaaagtggagacacaagtccttggctttagggctcccccggctgggggctgtgcagtccggtcagggcgggaggggaaatgcaccgctgcatgtgaaccttaccagcccaggcggatgccccttccccttagcactaccctggcctcctgcatcccctcgcctcatgttcctcccaccttcaaagaatgaagagccccatgggcccagcccctgccctgggaaccaggcagccttccagacctcaggggctgaggcagactattagggcagggctgactttggtgacactgcccattccctctcaggccagctcaggtcacccgggcctctgacccaggcctgtcactttgagaggggcaaaactgagaggggcttttcctagagaaagagaacaaggagcttgccaggcttcatgtagccgacacacgtctcaggattttaagtccacattggcctcacactaccagggccaatgcccaaaataaggagttccaatttggggccaaatgaggaaggacacagactctgccctgggatctcctgtgctagcggccaatgacaaatccagtcattggccaccagccacctctgcagtggggaccacactagcagccctgactccacactcctcctggggacccaagaggcagtgttgctgtctgcatgtccaccttggaatctggctgaactggctggcaggaccaagactgcggctggggtgggcagggaagggaagccgggggctgctgtgagggatcttggagcttccctgtagcccaccttccccttgcttcatgtttgtagaggaaccttgtgccggccaggcccagtttccttgtgtgatacactaatgtatttgctttttttggaaatagagaaaatcaataaattgctagtgtttctttgaacttt
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:5317 -> Molecular function: GO:0004871 [signal transducer activity] evidence: TAS
            GeneID:5317 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:5317 -> Molecular function: GO:0005521 [lamin binding] evidence: IDA
            GeneID:5317 -> Molecular function: GO:0019215 [intermediate filament binding] evidence: NAS
            GeneID:5317 -> Molecular function: GO:0030280 [structural constituent of epidermis] evidence: NAS
            GeneID:5317 -> Biological process: GO:0006915 [apoptotic process] evidence: TAS
            GeneID:5317 -> Biological process: GO:0006921 [cellular component disassembly involved in execution phase of apoptosis] evidence: TAS
            GeneID:5317 -> Biological process: GO:0007155 [cell adhesion] evidence: NAS
            GeneID:5317 -> Biological process: GO:0007165 [signal transduction] evidence: NAS
            GeneID:5317 -> Biological process: GO:0007275 [multicellular organismal development] evidence: IEA
            GeneID:5317 -> Biological process: GO:0045110 [intermediate filament bundle assembly] evidence: IDA
            GeneID:5317 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
            GeneID:5317 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
            GeneID:5317 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
            GeneID:5317 -> Cellular component: GO:0005882 [intermediate filament] evidence: TAS
            GeneID:5317 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
            GeneID:5317 -> Cellular component: GO:0030057 [desmosome] evidence: NAS

by @meso_cacase at DBCLS
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