LOCUS EU520485 2644 bp mRNA linear HUM 31-DEC-2008
DEFINITION Homo sapiens truncated plakophilin-2 (PKP2) mRNA, complete cds.
ACCESSION EU520485
VERSION EU520485.1
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 2644)
AUTHORS Rampazzo,A.
TITLE Mutations in PKP2 gene involved in ARVC
JOURNAL Unpublished
REFERENCE 2 (bases 1 to 2644)
AUTHORS Rampazzo,A.
TITLE Direct Submission
JOURNAL Submitted (22-FEB-2008) Biology, University of Padova, Via U. Bassi
58/B, Padova 35131, Italy
FEATURES Location/Qualifiers
source 1..2644
/db_xref="H-InvDB:HIT000557789"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="12"
/map="12p11.21"
gene 1..2644
/gene="PKP2"
CDS 1..252
/gene="PKP2"
/note="desmosomal protein; Q62DfsX22; deletion mutation
results in frameshift causing premature stop codon"
/codon_start=1
/product="truncated plakophilin-2"
/protein_id="ACD13294.1"
/translation="MAAPGAPAEYGYIRTVLGQQILGQLDSSSLALPSEAKLKLAGSS
GRGGQTVKSLRIQEQVQDPRPEGPQLRGQRKSSPNQQCS"
variation 183^184
/gene="PKP2"
/replace="ca"
BASE COUNT 707 a 712 c 705 g 520 t
ORIGIN
1 atggcagccc ccggcgcccc agctgagtac ggctacatcc ggaccgtcct gggccagcag
61 atcctgggac aactggacag ctccagcctg gcgctgccct ccgaggccaa gctgaagctg
121 gcggggagca gcggccgcgg cggccagaca gtcaagagcc tgcggatcca ggagcaggtg
181 caggaccctc gcccggaagg gccgcagctc cgtgggcaac ggaaatcttc accgaaccag
241 cagtgttcct gagtatgtct acaacctaca cttggttgaa aatgattttg ttggaggccg
301 ttcccctgtt cctaaaacct atgacatgct aaaggctggc acaactgcca cttatgaagg
361 tcgctgggga agaggaacag cacagtacag ctcccagaag tccgtggaag aaaggtcctt
421 gaggcatcct ctgaggagac tggagatttc tcctgacagc agcccggaga gggctcacta
481 cacgcacagc gattaccagt acagccagag aagccaggct gggcacaccc tgcaccacca
541 agaaagcagg cgggccgccc tcctagtgcc accgagatat gctcgttccg agatcgtggg
601 ggtcagccgt gctggcacca caagcaggca gcgccacttt gacacatacc acagacagta
661 ccagcatggc tctgttagcg acaccgtttt tgacagcatc cctgccaacc cggccctgct
721 cacgtacccc aggccaggga ccagccgcag catgggcaac ctcttggaga aggagaacta
781 cctgacggca gggctcactg tcgggcaggt caggccgctg gtgcccctgc agcccgtcac
841 tcagaacagg gcttccaggt cctcctggca tcagagctcc ttccacagca cccgcacgct
901 gagggaagct gggcccagtg tcgccgtgga ttccagcggg aggagagcgc acttgactgt
961 cggccaggcg gccgcagggg gaagtgggaa tctgctcact gagagaagca ctttcactga
1021 ctcccagctg gggaatgcag acatggagat gactctggag cgagcagtga gtatgctcga
1081 ggcagaccac atgctgccat ccaggatttc tgctgcagct actttcatac agcacgagtg
1141 cttccagaaa tctgaagctc ggaagagggt taaccagctt cgtggcatcc tcaagcttct
1201 gcagctccta aaagttcaga atgaagacgt tcagcgagct gtgtgtgggg ccttgagaaa
1261 cttagtattt gaagacaatg acaacaaatt ggaggtggct gaactaaatg gggtacctcg
1321 gctgctccag gtgctgaagc aaaccagaga cttggagact aaaaaacaaa taacagacca
1381 tacagtcaat ttaagaagta ggaatggctg gccgggcgcg gtggctcacg cctgtaatcc
1441 cagcactttg ggaggccaag gcgggcggat cacgaggtca ggagttcgag accagcctga
1501 ccaacatggt ttgctgtgga atttgtcatc taatgacaaa ctcaagaatc tcatgataac
1561 agaagcattg cttacgctga cggagaatat catcatcccc ttttctgggt ggcctgaagg
1621 agactaccca aaagcaaatg gtttgctcga ttttgacata ttctacaacg tcactggatg
1681 cctaagaaac atgagttctg ctggcgctga tgggagaaaa gcgatgagaa gatgtgacgg
1741 actcattgac tcactggtcc attatgtcag aggaaccatt gcagattacc agccagatga
1801 caaggccacg gagaattgtg tgtgcattct tcataacctc tcctaccagc tggaggcaga
1861 gctcccagag aaatattccc agaatatcta tattcaaaac cggaatatcc agactgacaa
1921 caacaaaagt attggatgtt ttggcagtcg aagcaggaaa gtaaaagagc aataccagga
1981 cgtgccgatg ccggaggaaa agagcaaccc caagggcgtg gagtggctgt ggcattccat
2041 tgttataagg atgtatctgt ccttgatcgc caaaagtgtc cgcaactaca cacaagaagc
2101 atccttagga gctctgcaga acctcacggc cggaagtgga ccaatgccga catcagtggc
2161 tcagacagtt gtccagaagg aaagtggcct gcagcacacc cgaaagatgc tgcatgttgg
2221 tgacccaagt gtgaaaaaga cagccatctc gctgctgagg aatctgtccc ggaatctttc
2281 tctgcagaat gaaattgcca aagaaactct ccctgatttg gtttccatca ttcctgacac
2341 agtcccgagt actgaccttc tcattgaaac tacagcctct gcctgttaca cattgaacaa
2401 cataatccaa aacagttacc agaatgcacg cgaccttcta aacaccgggg gcatccagaa
2461 aattatggcc attagtgcag gcgatgccta tgcctccaac aaagcaagta aagctgcttc
2521 cgtccttctg tattctctgt gggcacacac ggaactgcat catgcctaca agaaggctca
2581 gtttaagaag acagattttg tcaacagccg gactgccaaa gcctaccact cccttaaaga
2641 ctga
//