LOCUS AY388963 3469 bp mRNA linear HUM 09-DEC-2003 DEFINITION Homo sapiens protocadherin 15 isoform B (PCDH15) mRNA, complete cds, alternatively spliced. ACCESSION AY388963 VERSION AY388963.1 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 3469) AUTHORS Ahmed,Z.M., Riazuddin,S., Ahmad,J., Bernstein,S.L., Guo,Y., Sabar,M.F., Sieving,P., Riazuddin,S., Griffith,A.J., Friedman,T.B., Belyantseva,I.A. and Wilcox,E.R. TITLE PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23 JOURNAL Hum. Mol. Genet. 12 (24), 3215-3223 (2003) PUBMED 14570705 REFERENCE 2 (bases 1 to 3469) AUTHORS Ahmed,Z.M., Riazuddin,S., Ahmad,J., Bernstein,S.L., Guo,Y., Sabir,M.F., Sieving,P., Riazuddin,S., Griffith,A.J., Friedman,T.B., Belyantseva,I.A. and Wilcox,E.R. TITLE Direct Submission JOURNAL Submitted (11-SEP-2003) Laboratory of Molecular Genetics, NIDCD, NIH, 5 Research Court, 2A-19, Rockville, MD 20850, USA FEATURES Location/Qualifiers source 1..3469 /db_xref="H-InvDB:HIT000253461" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q21.2" gene 1..3469 /gene="PCDH15" CDS 374..2887 /gene="PCDH15" /note="alternatively spliced" /codon_start=1 /product="protocadherin 15 isoform B" /protein_id="AAR26468.1" /translation="MTFSHSGNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTS VLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLIKTAMLFHNMRRSYFKF QVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEKKIEDLTEILDRYVQEQ IPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFLDGKLLD INKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILV VLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELG DSSILFLLYHFQQSRGNNSVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSA RKFTFLSDEDDLSAHNPLYKENISQVSTNSDISQRTDFVDPFSPKIQAKSKSLRGPRE KIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENENTGICTNKRGSSNPLL TTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRTVELK SEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISP SACPLPPPPPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSV STSGPPTPPLLPPFPTPLPPPPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKI KSSMTQLSTTTVCKTDPQREPKGILRHVKNLAELEKSVANMYSQIEKNYLRTNVSELQ TMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL" BASE COUNT 1070 a 781 c 634 g 984 t ORIGIN 1 gcttccaagc ttctgccttg aaataatcaa tatccaaatt tggtggaaga acatggtaca 61 atccttagtg gggaagcacg tgagccaagg aaattgatga tgtcatgtac attgtataca 121 catgaataaa aaagtcaaaa agaacgctgt tctagtgatt taactatagg tgtatactta 181 tttgcttttc cttttcttac tggccaacat ttattttaca ttctttaagt agacacacta 241 caatttctta taattgtccc agtgacttct caagtggata atctggtgac ttctccttcc 301 cgagacaagg agcaagcaca tgacccaaac taggacagtc aggacacatt agaaagacac 361 gacaggggag cagatgacgt ttagtcactc aggcaataca gctaaagtat acattgagat 421 tcaggatgaa aataatcatc ccccagtgtt tcagaaaaaa ttctacatcg gaggtgtatc 481 tgaagatgca agaatgttta cttctgtact cagagtgaag gctactgata aagatactgg 541 caattatagt gtcatggcct acagactcat aataccacca attaaagagg gaaaagaagg 601 atttgtagtg gaaacatata cagggcttat caaaactgct atgctcttcc ataatatgag 661 gagatcctac ttcaagtttc aagttattgc aactgacgac tatgggaagg gactgagcgg 721 caaagccgat gtactcgtct ccgtggtcaa tcagctggat atgcaagtca ttgtttccaa 781 tgtgcctcct actctagtgg aaaaaaagat agaagatctt acagagatct tggatcgcta 841 tgttcaggaa caaattcctg gtgccaaggt cgtagtggag tccattggag ctcgccggca 901 tggagatgcc ttttccctag aagattacac caaatgtgac ttgactgtct atgcaattga 961 cccccaaacc aacagagcca tcgatagaaa tgagcttttt aaatttttgg atggcaaact 1021 acttgatatc aataaagact ttcagccgta ttatggggaa ggaggacgca ttctggagat 1081 ccggactcca gaggcagtga ccagcattaa aaagagagga gaaagtctag gatacacaga 1141 aggggccttg ttggctctgg ccttcatcat catcctctgc tgcattcctg ccatcttggt 1201 ggttttggtc agctacagac agtttaaagt acgtcaagct gagtgtacaa agactgcacg 1261 aattcaggcc gcattacccg cggctaaacc agcagtgccg gctcctgcac cagtggcagc 1321 gcccccgccg ccgccgccgc ctccgccagg tgcgcatctc tatgaagaac ttggagacag 1381 ctcaattctt ttccttctct accattttca acaaagcagg ggaaataact cagtctcaga 1441 agacaggaaa catcaacaag ttgtgatgcc cttttcttcc aatactattg aggctcacaa 1501 gtcagctcat gtagacggat cacttaagag caacaaactg aagtctgcaa gaaaattcac 1561 atttctatct gatgaggatg acttaagtgc ccataatccc ctttataagg aaaacataag 1621 tcaagtatca acaaattcag acatttcaca gagaacagat tttgtagacc cattttcacc 1681 caaaatacaa gccaagagta agtctctgag gggcccaaga gaaaagattc agaggctgtg 1741 gagtcagtca gtcagcttac ccaggaggct gatgaggaaa gttccaaata gaccagagat 1801 catagatctg cagcagtggc aaggcaccag gcagaaagct gaaaatgaaa acactggaat 1861 ctgtacaaac aaaagaggta gcagcaatcc attgcttaca actgaagagg caaatttgac 1921 agagaaagag gaaataaggc aaggtgaaac actgatgata gaaggaacag aacagttgaa 1981 atctctctct tcagactctt cattttgctt tcccaggcct cacttctcat tctccacttt 2041 gccaactgtt tcaagaactg tggaactcaa atcagaacct aatgtcatca gttctcctgc 2101 tgagtgttcc ttggaacttt ctccttcaag gccttgtgtt ttacattctt cactctctag 2161 gagagagaca cctatttgta tgttacctat tgaaaccgaa agaaatattt ttgaaaattt 2221 tgcccatcca ccaaacatct ctccttctgc ctgtcccctt ccccctcctc ctcctatttc 2281 tcctccttct cctcctcctg ctcctgctcc tcttgctcct cctcctgaca tttctccttt 2341 ttctcttttt tgtcctcctc cctctcctcc ttctatccct cttcctcttc ctcctcctac 2401 attttttcca ctttccgttt caacgtctgg tcccccaaca ccacctcttc tacctccatt 2461 tccaactcct cttcctccac cacctccttc tattccttgc cctccacctc cttcagcttc 2521 atttctgtcc acagagtgtg tctgtataac aggtgttaaa tgcacgacca acttgatgcc 2581 tgccgagaaa attaagtcct ctatgacaca gctatcaaca acgacagtgt gtaaaacaga 2641 ccctcagaga gaaccaaaag gcatcctcag acacgttaaa aacttagcag aacttgaaaa 2701 atcagtagct aacatgtaca gtcaaataga aaaaaactat ctacgcacaa atgtttcaga 2761 acttcaaact atgtgccctt cagaagtaac aaatatggaa atcacatctg aacaaaacaa 2821 ggggagtttg aacaatattg tcgagggaac tgaaaaacaa tctcacagtc aatctacttc 2881 actgtaatgt tgcttttctt attttagtcg ggcaaacctc ttgttgatca tagtcttcaa 2941 gttgaacatc aaatttgaac gtcaaagaag actctattat tttaccccaa attcaatgaa 3001 atgcagtttt ttttctcgtt tttaatttaa aaagatatta acctcatcac tactaactca 3061 ctcatataat agatttacct tactttttaa aaactacaaa gtagcataat ttgttctaca 3121 tttatttgaa aagtaagtaa ttttaatctc ttttttagtg ggaatatgtg ggcatgaaaa 3181 ttagataccc aacttaaacc aaaggcatgt ctatcatgtg gatgcagtaa catttacatt 3241 tagtttttga tcgtagtttt atatgaatgt tccaagaaaa aagcagactg ttacaaataa 3301 gttaaaactg atatgattga taggttctgt tttttcttga agcctatgta tttggtaaga 3361 agaaatacta ccgaagtaaa atataatgta cctagattgt aggagatgac agacataagg 3421 tatttcaaaa taaatctcag gtgctataac atgtagtcat ctgttttct //