LOCUS       EU520483                2646 bp    mRNA    linear   HUM 31-DEC-2008
DEFINITION  Homo sapiens plakophilin-2 (PKP2) mRNA, complete cds.
ACCESSION   EU520483
VERSION     EU520483.1
KEYWORDS    .
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 2646)
  AUTHORS   Rampazzo,A.
  TITLE     Mutations in PKP2 gene involved in ARVC
  JOURNAL   Unpublished
REFERENCE   2  (bases 1 to 2646)
  AUTHORS   Rampazzo,A.
  TITLE     Direct Submission
  JOURNAL   Submitted (21-FEB-2008) Biology, University of Padova, Via U. Bassi
            58/B, Padova 35131, Italy
FEATURES             Location/Qualifiers
     source          1..2646
                     /db_xref="H-InvDB:HIT000557787"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p11.21"
     gene            1..2646
                     /gene="PKP2"
     CDS             1..2646
                     /gene="PKP2"
                     /note="desmosomal protein; K112N"
                     /codon_start=1
                     /product="plakophilin-2"
                     /protein_id="ACD13292.1"
                     /translation="MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSS
                     GRGGQTVKSLRIQEQVQQTLARKGRSSVGNGNLHRTSSVPEYVYNLHLVENDFVGGRS
                     PVPKTYDMLNAGTTATYEGRWGRGTAQYSSQKSVEERSLRHPLRRLEISPDSSPERAH
                     YTHSDYQYSQRSQAGHTLHHQESRRAALLVPPRYARSEIVGVSRAGTTSRQRHFDTYH
                     RQYQHGSVSDTVFDSIPANPALLTYPRPGTSRSMGNLLEKENYLTAGLTVGQVRPLVP
                     LQPVTQNRASRSSWHQSSFHSTRTLREAGPSVAVDSSGRRAHLTVGQAAAGGSGNLLT
                     ERSTFTDSQLGNADMEMTLERAVSMLEADHMLPSRISAAATFIQHECFQKSEARKRVN
                     QLRGILKLLQLLKVQNEDVQRAVCGALRNLVFEDNDNKLEVAELNGVPRLLQVLKQTR
                     DLETKKQITDHTVNLRSRNGWPGAVAHACNPSTLGGQGGRITRSGVRDQPDQHGLLWN
                     LSSNDKLKNLMITEALLTLTENIIIPFSGWPEGDYPKANGLLDFDIFYNVTGCLRNMS
                     SAGADGRKAMRRCDGLIDSLVHYVRGTIADYQPDDKATENCVCILHNLSYQLEAELPE
                     KYSQNIYIQNRNIQTDNNKSIGCFGSRSRKVKEQYQDVPMPEEKSNPKGVEWLWHSIV
                     IRMYLSLIAKSVRNYTQEASLGALQNLTAGSGPMPTSVAQTVVQKESGLQHTRKMLHV
                     GDPSVKKTAISLLRNLSRNLSLQNEIAKETLPDLVSIIPDTVPSTDLLIETTASACYT
                     LNNIIQNSYQNARDLLNTGGIQKIMAISAGDAYASNKASKAASVLLYSLWAHTELHHA
                     YKKAQFKKTDFVNSRTAKAYHSLKD"
     variation       336
                     /gene="PKP2"
                     /note="results in asparagine to lysine substitution"
                     /replace="g"
BASE COUNT          708 a          713 c          704 g          521 t
ORIGIN      
        1 atggcagccc ccggcgcccc agctgagtac ggctacatcc ggaccgtcct gggccagcag
       61 atcctgggac aactggacag ctccagcctg gcgctgccct ccgaggccaa gctgaagctg
      121 gcggggagca gcggccgcgg cggccagaca gtcaagagcc tgcggatcca ggagcaggtg
      181 cagcagaccc tcgcccggaa gggccgcagc tccgtgggca acggaaatct tcaccgaacc
      241 agcagtgttc ctgagtatgt ctacaaccta cacttggttg aaaatgattt tgttggaggc
      301 cgttcccctg ttcctaaaac ctatgacatg ctaaatgctg gcacaactgc cacttatgaa
      361 ggtcgctggg gaagaggaac agcacagtac agctcccaga agtccgtgga agaaaggtcc
      421 ttgaggcatc ctctgaggag actggagatt tctcctgaca gcagcccgga gagggctcac
      481 tacacgcaca gcgattacca gtacagccag agaagccagg ctgggcacac cctgcaccac
      541 caagaaagca ggcgggccgc cctcctagtg ccaccgagat atgctcgttc cgagatcgtg
      601 ggggtcagcc gtgctggcac cacaagcagg cagcgccact ttgacacata ccacagacag
      661 taccagcatg gctctgttag cgacaccgtt tttgacagca tccctgccaa cccggccctg
      721 ctcacgtacc ccaggccagg gaccagccgc agcatgggca acctcttgga gaaggagaac
      781 tacctgacgg cagggctcac tgtcgggcag gtcaggccgc tggtgcccct gcagcccgtc
      841 actcagaaca gggcttccag gtcctcctgg catcagagct ccttccacag cacccgcacg
      901 ctgagggaag ctgggcccag tgtcgccgtg gattccagcg ggaggagagc gcacttgact
      961 gtcggccagg cggccgcagg gggaagtggg aatctgctca ctgagagaag cactttcact
     1021 gactcccagc tggggaatgc agacatggag atgactctgg agcgagcagt gagtatgctc
     1081 gaggcagacc acatgctgcc atccaggatt tctgctgcag ctactttcat acagcacgag
     1141 tgcttccaga aatctgaagc tcggaagagg gttaaccagc ttcgtggcat cctcaagctt
     1201 ctgcagctcc taaaagttca gaatgaagac gttcagcgag ctgtgtgtgg ggccttgaga
     1261 aacttagtat ttgaagacaa tgacaacaaa ttggaggtgg ctgaactaaa tggggtacct
     1321 cggctgctcc aggtgctgaa gcaaaccaga gacttggaga ctaaaaaaca aataacagac
     1381 catacagtca atttaagaag taggaatggc tggccgggcg cggtggctca cgcctgtaat
     1441 cccagcactt tgggaggcca aggcgggcgg atcacgaggt caggagttcg agaccagcct
     1501 gaccaacatg gtttgctgtg gaatttgtca tctaatgaca aactcaagaa tctcatgata
     1561 acagaagcat tgcttacgct gacggagaat atcatcatcc ccttttctgg gtggcctgaa
     1621 ggagactacc caaaagcaaa tggtttgctc gattttgaca tattctacaa cgtcactgga
     1681 tgcctaagaa acatgagttc tgctggcgct gatgggagaa aagcgatgag aagatgtgac
     1741 ggactcattg actcactggt ccattatgtc agaggaacca ttgcagatta ccagccagat
     1801 gacaaggcca cggagaattg tgtgtgcatt cttcataacc tctcctacca gctggaggca
     1861 gagctcccag agaaatattc ccagaatatc tatattcaaa accggaatat ccagactgac
     1921 aacaacaaaa gtattggatg ttttggcagt cgaagcagga aagtaaaaga gcaataccag
     1981 gacgtgccga tgccggagga aaagagcaac cccaagggcg tggagtggct gtggcattcc
     2041 attgttataa ggatgtatct gtccttgatc gccaaaagtg tccgcaacta cacacaagaa
     2101 gcatccttag gagctctgca gaacctcacg gccggaagtg gaccaatgcc gacatcagtg
     2161 gctcagacag ttgtccagaa ggaaagtggc ctgcagcaca cccgaaagat gctgcatgtt
     2221 ggtgacccaa gtgtgaaaaa gacagccatc tcgctgctga ggaatctgtc ccggaatctt
     2281 tctctgcaga atgaaattgc caaagaaact ctccctgatt tggtttccat cattcctgac
     2341 acagtcccga gtactgacct tctcattgaa actacagcct ctgcctgtta cacattgaac
     2401 aacataatcc aaaacagtta ccagaatgca cgcgaccttc taaacaccgg gggcatccag
     2461 aaaattatgg ccattagtgc aggcgatgcc tatgcctcca acaaagcaag taaagctgct
     2521 tccgtccttc tgtattctct gtgggcacac acggaactgc atcatgccta caagaaggct
     2581 cagtttaaga agacagattt tgtcaacagc cggactgcca aagcctacca ctcccttaaa
     2641 gactga
//