LOCUS EU718481 5988 bp mRNA linear HUM 03-AUG-2009 DEFINITION Homo sapiens protocadherin-15-CD2 isoform 2 (PCDH15) mRNA, complete cds. ACCESSION EU718481 VERSION EU718481.1 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 5988) AUTHORS Ahmed,Z.M., Riazuddin,S., Aye,S., Ali,R.A., Venselaar,H., Anwar,S., Belyantseva,P.P., Qasim,M., Riazuddin,S. and Friedman,T.B. TITLE Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome JOURNAL Hum. Genet. 124 (3), 215-223 (2008) PUBMED 18719945 REFERENCE 2 (bases 1 to 5988) AUTHORS Ahmed,Z.M. and Friedman,T.B. TITLE Gene structure and mutant alleles of PCDH15 JOURNAL Unpublished REFERENCE 3 (bases 1 to 5988) AUTHORS Ahmed,Z.M. and Friedman,T.B. TITLE Direct Submission JOURNAL Submitted (14-MAY-2008) LMG, NIDCD, 5 Research Court, Room 2A19, Rockville, MD 20850, USA FEATURES Location/Qualifiers source 1..5988 /db_xref="H-InvDB:HIT000645523" /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="10" /map="10q25.5" /tissue_type="retina" gene 1..5988 /gene="PCDH15" CDS 396..4958 /gene="PCDH15" /codon_start=1 /product="protocadherin-15-CD2 isoform 2" /protein_id="ACF76477.1" /translation="MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIV AIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRV LDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELT PVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRK RLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRD CRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDY PRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQS PYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDTKDPELHLFLNDYTS VFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMDANDNTPT FPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINKTTGLIT IAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLE ISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTD RYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVK ATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVATDGAVHP RHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLGANVSYRI RSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIATVTV IVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQF PYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPG EIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGV IYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENNHPPVFQK KFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVVETYTGLI KTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLVEK KIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRA IDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALL ALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPP PPPPPPPGAHLYEELGDSSILYYRNYPWSLELILARNMDKIITVMSMGMKCLNMGVAV DCYHQLDRRNMVRWLVKLRKNMRRKR" BASE COUNT 1859 a 1215 c 1423 g 1491 t ORIGIN 1 caacgtgctg agctaatagc gacagataga gggcagacag attcctgcta gcagcttagt 61 gttagttgct tgtggtaact aaggcaggtg gcatacatct cagaacgtgg agaatgatgg 121 tatgctttct gagttaacat gttgaactgt tttgcttttc taaaaatttt cctagtaaca 181 ttttcttgat gatatgagag tggatatcaa tgcctcacag aaacaagagg tggaacatgt 241 gaatgaatcg tcttggaact agattatgag cactggttct ttttaaaggg atgtgcaaga 301 ggcagccttg gcaagaaaac ttgctgcata atcttacatg gactaaagat gaaactttaa 361 accgcaaatc agctttgagt gaactttgac agaagatgtt tcgacagttt tatctctgga 421 catgtttagc ttcagggatc atcctgggct ctctctttga aatctgcttg ggccagtatg 481 atgatgattg caaactagct aggggaggac caccagctac catagttgct attgatgaag 541 aaagtcggaa tggtacaatt ctggtggaca acatgctgat caaagggact gctggaggac 601 cagaccccac catagaactt tctttaaagg ataatgtgga ttactgggtg ttgatggatc 661 ctgttaagca aatgcttttc ctgaacagca ccggaagagt tctggataga gatccaccga 721 tgaacataca ctccattgtg gtgcaggtcc agtgcatcaa caaaaaagtg ggcactatta 781 tctaccatga agtgcgaata gtggtgagag acaggaatga caactcaccc actttcaagc 841 atgaaagcta ctatgccaca gtgaatgagc tcactccagt tggtaccaca atattcacag 901 gattttcagg agacaatgga gctacagata tagatgatgg accaaatgga cagatagagt 961 atgttattca gtataatcca gatgatccga catccaatga cacctttgaa attcccctaa 1021 tgttgactgg aaatatagtg ttaaggaaga ggctcaacta tgaagataag actcgctact 1081 ttgtcataat ccaagctaat gaccgtgccc aaaatctgaa tgagaggcga accaccacca 1141 ccactctcac agtggatgtt ctggatggag atgacttggg tccaatgttt cttccttgtg 1201 tccttgtgcc aaacactcgt gattgccgtc cactcactta tcaagctgcc atacctgagt 1261 tgagaactcc ggaagaactg aaccccatta ttgttacgcc accaatccaa gccattgatc 1321 aggaccggaa tattcaaccg ccatcagata ggccaggaat cctctattcc atccttgttg 1381 ggactcctga ggattaccca cgatttttcc atatgcatcc taggacagca gaacttagtc 1441 tcctggagcc agtaaacaga gactttcacc agaaatttga tttggttatt aaggctgaac 1501 aagacaatgg tcatcctctt cctgcctttg ccggtctaca cattgaaata ctggatgaaa 1561 acaatcaaag tccatatttt acaatgccca gttatcaagg ctatatcctg gaatctgccc 1621 cagtgggagc aaccatttcg gacagtctca atttgacttc acctttaaga atagtagctc 1681 tggacaagga catagaagat acaaaagacc cagagcttca cctttttctg aatgactaca 1741 cctcagtctt caccgtcaca cagactggta ttactcgcta cctcacctta cttcaaccag 1801 tggacaggga agaacagcaa acttacacct tttcgataac agcatttgat ggtgtacaag 1861 aaagtgagcc agtcatcgtc aatattcaag tgatggatgc aaatgataac acgccaacct 1921 tccctgaaat atcctatgat gtgtatgttt atacagacat gagacctggg gacagtgtca 1981 tacagctcac tgcagtcgac gcagacgaag ggtcaaatgg ggagatcaca tatgaaatcc 2041 ttgttggggc tcagggagac ttcatcatca ataaaacaac agggcttatc accatcgctc 2101 caggggtgga aatgatagtc gggcggactt acgcactcac ggtccaagca gcggataatg 2161 ctcctcctgc agagcgaagg aactccatct gcactgtgta tattgaagtg cttccaccaa 2221 ataatcaaag ccctcctcgc ttcccacagc tgatgtatag ccttgaaatt agtgaagcca 2281 tgagggttgg tgctgtttta ttaaatctac aggcaactga tcgagaggga gactcaataa 2341 catatgccat tgagaatgga gatcctcaga gagtttttaa tctttcagaa accacgggga 2401 ttctaacctt agggaaagca ctggacaggg aaagcactga tcgctacatt ctgatcatca 2461 cagcttcaga tggcaggcca gatgggacct caactgccac agtaaacata gtggtgacag 2521 atgtcaatga caatgctcca gtgtttgatc cttatctgcc aagaaattta tctgtggtgg 2581 aagaagaagc caatgccttt gtgggtcaag taaaagcaac agaccctgat gctggaataa 2641 atggtcaagt gcactacagt ttgggtaact ttaataatct ttttcgtatc acatccaatg 2701 ggagcattta cacagcagtg aagcttaaca gagaagtcag ggactactat gaacttgttg 2761 ttgtggcaac agatggagca gtacaccctc gtcattcaac tctaaccttg gccatcaagg 2821 ttttggacat tgatgataac agtcctgtgt tcaccaattc aacatacact gtccttgttg 2881 aagagaattt gccagctggg actaccatcc ttcaaataga ggccaaagat gtcgaccttg 2941 gagcaaatgt gtcttaccgg ataagaagcc cagaagtgaa gcactttttt gcactacatc 3001 catttacagg agaactatcg cttttaagga gtttagatta tgaggcattt ccagaccaag 3061 aagcaagtat cacttttctg gtagaggcct ttgatattta tggaacaatg ccacctggta 3121 ttgctactgt cacagtgatt gtaaaggata tgaatgatta tcctcctgtc tttagtaaac 3181 gaatatacaa agggatggtg gctccggatg cagtcaaggg tacacctatc acaacagttt 3241 atgctgaaga tgcagaccct cctggattac ctgcaagtcg tgtgaggtat agagtagatg 3301 atgtacagtt tccttaccct gccagtattt ttgaagtgga agaagattct ggaagagtaa 3361 taacacgagt caatcttaat gaagaaccta caacaatttt taagttggtg gtggttgctt 3421 ttgatgatgg ggagcctgtg atgtccagca gtgccacagt gaagattctt gtcttacatc 3481 ctggtgagat cccacgcttc acacaggagg aatatagacc tcctccagta agtgaacttg 3541 ccaccaaagg gaccatggtt ggtgtaattt ctgctgctgc cattaatcaa agtattgtgt 3601 actccattgt ttcaggaaat gaagaagata catttggaat taataacatc acaggtgtta 3661 tctatgtgaa tggacctctg gattatgaga ccaggacaag ctatgtactt cgagtccaag 3721 ctgattccct ggaagtggtc cttgccaatc tccgagttcc ttcaaaaagc aatacagcta 3781 aagtatacat tgagattcag gatgaaaata atcatccccc agtgtttcag aaaaaattct 3841 acatcggagg tgtatctgaa gatgcaagaa tgtttacttc tgtactcaga gtgaaggcta 3901 ctgataaaga tactggcaat tatagtgtca tggcctacag actcataata ccaccaatta 3961 aagagggaaa agaaggattt gtagtggaaa catatacagg gcttatcaaa actgctatgc 4021 tcttccataa tatgaggaga tcctacttca agtttcaagt tattgcaact gacgactatg 4081 ggaagggact gagcggcaaa gccgatgtac tcgtctccgt ggtcaatcag ctggatatgc 4141 aagtcattgt ttccaatgtg cctcctactc tagtggaaaa aaagatagaa gatcttacag 4201 agatcttgga tcgctatgtt caggaacaaa ttcctggtgc caaggtcgta gtggagtcca 4261 ttggagctcg ccggcatgga gatgcctttt ccctagaaga ttacaccaaa tgtgacttga 4321 ctgtctatgc aattgacccc caaaccaaca gagccatcga tagaaatgag ctttttaaat 4381 ttttggatgg caaactactt gatatcaata aagactttca gccgtattat ggggaaggag 4441 gacgcattct ggagatccgg actccagagg cagtgaccag cattaaaaag agaggagaaa 4501 gtctaggata cacagaaggg gccttgttgg ctctggcctt catcatcatc ctctgctgca 4561 ttcctgccat cttggtggtt ttggtcagct acagacagtt taaagtacgt caagctgagt 4621 gtacaaagac tgcacgaatt caggccgcat tacccgcggc taaaccagca gtgccggctc 4681 ctgcaccagt ggcagcgccc ccgccgccgc cgccgcctcc gccaggtgcg catctctatg 4741 aagaacttgg agacagctca attttatatt acaggaatta tccatggagt ctggaattga 4801 tcctggccag gaatatggac aagattatta cagttatgag catgggtatg aaatgcctca 4861 atatgggagt cgccgtcgat tgttaccacc agctggacag gaggaatatg gtgaggtggt 4921 tggtgaagct gaggaagaat atgaggagga agaggtaatt actgaagagc caaagaaaat 4981 taaaaaacca aaggttgaaa ttagagagcc tagtgaggag gaagaagtag ttgtaactat 5041 cgaaaaacca ccagcagctg agcctacata cacaacatgg aagagagcca gaatattccc 5101 catgattttt aagaaagtta gaggattagc tgataaaaga ggaatcgttg accttgaggg 5161 tgaagagtgg cagagacgcc ttgaggaaga agataaagat tatttgaaac tcactctgga 5221 ccaagaggaa gcaacagaaa gcactgtaga atcagaggag gaatcctcca gcgactatac 5281 tgaatacagt gaagaagagt ctgagttcag tgagtctgag actacagaag aggaatctga 5341 gtcagagaca ccctctgagg aggaggagag ttccacccct gaatcagaag aatcggaatc 5401 cacagagtca gaaggagaaa aagcaaggaa aaacattgtg cttgcaagaa gaaggcccat 5461 ggttgaggag gtcaaggaag tcaagggtag gaaagaggag ccacaagaag aacaaaaaga 5521 acctaagatg gaagaagaag aacactcaga agaagaagaa agtggaccag cccctgtgga 5581 agaaagtaca gaccctgaag ctcaagatat ccctgaagag ggcagtgcag aatcagcttc 5641 ggtggaagga ggtgtggaaa gtgaggagga atcagaatca ggtagtagta gcagtagtag 5701 cgaaagtcag tctggaggtc catggggcta tcaggtacca gcgtatgaca gaagcaagaa 5761 tgcaaaccaa aagaagtcgc caggagcaaa ctctgaaggt tacaacacag cactttgaaa 5821 gagatcacag taggtggaag ttttgctgtg atgagtgctc tcgtgtgcag tgccttctgt 5881 gtgttctcca aagtgacact tgaaagggag gaaattgatc aagattttga tatgacttat 5941 gatcagaagc atgccagaaa agtgaatata tatgttgtcc aaatccat //