LOCUS       EU718482                5846 bp    mRNA    linear   HUM 03-AUG-2009
DEFINITION  Homo sapiens protocadherin-15-CD3 isoform 1 (PCDH15) mRNA, complete
            cds.
ACCESSION   EU718482
VERSION     EU718482.1
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 5846)
  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 5846)
  AUTHORS   Ahmed,Z.M. and Friedman,T.B.
  TITLE     Gene structure and mutant alleles of PCDH15
  JOURNAL   Unpublished
REFERENCE   3  (bases 1 to 5846)
  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..5846
                     /db_xref="H-InvDB:HIT000645524"
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q25.5"
                     /tissue_type="retina"
     gene            1..5846
                     /gene="PCDH15"
     CDS             396..5423
                     /gene="PCDH15"
                     /codon_start=1
                     /product="protocadherin-15-CD3 isoform 1"
                     /protein_id="ACF76478.1"
                     /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
                     PPPPPPPGAHLYEELGDSSMYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEEYEEEEWA
                     RKRMIKLVVDREYETSSTGEDSAPECQRNRLHHPSIHSNINGNIYIAQNGSVVRTRRA
                     CLTDNLKVASPVRLGGPFKKLDKLAVTHEENVPLNTLSKGPFSTEKMNARPTLVTFAP
                     CPVGTDNTAVKPLRNRLKSTVEQESMIDSKNIKEALEFHSDHTQSDDEELWMGPWNNL
                     HIPMTKL"
BASE COUNT         1777 a         1211 c         1294 g         1564 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 atgtatgaaa tgcctcaata tgggagtcgc cgtcgattgt
     4801 taccaccagc tggacaggag gaatatggtg aggtggttgg tgaagctgag gaagaatatg
     4861 aggaggaaga gtgggcaaga aaaagaatga tcaagttagt tgttgatcga gagtatgaaa
     4921 ccagctcaac tggagaagac agtgctcctg aatgtcagag aaaccgtctt caccatccta
     4981 gtatccacag taatatcaac ggcaatatat atattgcaca gaatggttct gtggtgagaa
     5041 cccgccgtgc ctgcctcacg gacaacttaa aagttgcttc ccctgttcga ctgggagggc
     5101 cctttaagaa actagacaag ttggcagtga cacatgagga gaatgtacct ctgaacacat
     5161 tatcaaaggg gccattttct actgaaaaaa tgaatgcaag accaactctg gttacatttg
     5221 ccccttgccc tgtggggact gacaatacag cggtgaagcc actaaggaac aggctgaaaa
     5281 gcacagttga acaggagtcc atgattgaca gtaagaacat caaggaggct ttggaatttc
     5341 atagtgacca cacacagtct gatgatgaag agctttggat gggcccctgg aacaacctcc
     5401 atataccaat gacaaaactg tgaccaattt tttaaaagat attttaatta atttttactt
     5461 acatttttaa taaactgtgc tttttattgt cactgagaaa acaatgtatg gaatttatat
     5521 catgcacaca agctaaaact ttgaacaata tgctttaaaa ttttaagaga cagatttgca
     5581 ctcacattgt tatcaattaa tcgtttttcc cagaaaatcc ttttggacat actttcacta
     5641 aataacctat cgtttaaaca tttagctgtt ttgttgggtc ttgaattttt gttcatttta
     5701 ataaacaaga aataattact aaataatcat ttatatttta ttgattaaca tagattatgc
     5761 tttatttcta gctccacaaa acatttttag tacatgtaat tttattttcc atagccaaaa
     5821 gggcaaaaaa gaagtaagag gatatt
//