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 REFERENCE 1 (bases 1 to 2646) AUTHORS Rampazzo,A. TITLE Mutations in PKP2 gene involved in ARVC JOURNAL Unpublished REFERENCE 2 (bases 1 to 2646) AUTHORS Rampazzo,A. TITLE Direct Submission JOURNAL Submitted (21-FEB-2008) Biology, University of Padova, Via U. Bassi 58/B,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 //