LOCUS EU718480 5917 bp mRNA linear HUM 03-AUG-2009
DEFINITION Homo sapiens protocadherin-15-CD2 isoform 1 (PCDH15) mRNA, complete
cds.
ACCESSION EU718480
VERSION EU718480.1
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 5917)
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 5917)
AUTHORS Ahmed,Z.M. and Friedman,T.B.
TITLE Gene structure and mutant alleles of PCDH15
JOURNAL Unpublished
REFERENCE 3 (bases 1 to 5917)
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..5917
/db_xref="H-InvDB:HIT000645522"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q25.5"
/tissue_type="retina"
gene 1..5917
/gene="PCDH15"
CDS 396..5747
/gene="PCDH15"
/codon_start=1
/product="protocadherin-15-CD2 isoform 1"
/protein_id="ACF76476.1"
/translation="MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIV
AIDEESRNGTILVDNMLIKGTAGGPDPTIELSLKDNVDYWVLMDPVKQMLFLNSTGRV
LDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDRNDNSPTFKHESYYATVNELT
PVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLMLTGNIVLRK
RLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRD
CRPLTYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDY
PRFFHMHPRTAELSLLEPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQS
PYFTMPSYQGYILESAPVGATISDSLNLTSPLRIVALDKDIEDVPPSGVPTKDPELHL
FLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQESEPVIVNIQVMD
ANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIIN
KTTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFP
QLMYSLEISEAMRVGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKA
LDRESTDRYILIITASDGRPDGTSTATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEAN
AFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGSIYTAVKLNREVRDYYELVVVA
TDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQIEAKDVDLG
ANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPP
GIATVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRY
RVDDVQFPYPASIFEVEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVK
ILVLHPGEIPRFTQEEYRPPPVSELATKGTMVGVISAAAINQSIVYSIVSGNEEDTFG
INNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLRVPSKSNTAKVYIEIQDENN
HPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKEGKEGFVV
ETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNV
PPTLVEKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAI
DPQTNRAIDRNELFKFLDGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLG
YTEGALLALAFIIILCCIPAILVVLVSYRQFKVRQAECTKTARIQAALPAAKPAVPAP
APVAAPPPPPPPPPGAHLYEELGDSSMYEMPQYGSRRRLLPPAGQEEYGEVVGEAEEE
YEEEEEEPKKIKKPKVEIREPSEEEEVVVTIEKPPAAEPTYTTWKRARIFPMIFKKVR
GLADKRGIVDLEGEEWQRRLEEEDKDYLKLTLDQEEATESTVESEEESSSDYTEYSEE
ESEFSESETTEEESESETPSEEEESSTPESEESESTESEGEKARKNIVLARRRPMVEE
VKEVKGRKEEPQEEQKEPKMEEEEHSEEEESGPAPVEESTDPEAQDIPEEGSAESASV
EGGVESEEESESGSSSSSSESQSGGPWGYQVPAYDRSKNANQKKSPGANSEGYNTAL"
BASE COUNT 1833 a 1210 c 1407 g 1467 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 gttccaccca gtggagttcc tacaaaagac ccagagcttc
1741 acctttttct gaatgactac acctcagtct tcaccgtcac acagactggt attactcgct
1801 acctcacctt acttcaacca gtggacaggg aagaacagca aacttacacc ttttcgataa
1861 cagcatttga tggtgtacaa gaaagtgagc cagtcatcgt caatattcaa gtgatggatg
1921 caaatgataa cacgccaacc ttccctgaaa tatcctatga tgtgtatgtt tatacagaca
1981 tgagacctgg ggacagtgtc atacagctca ctgcagtcga cgcagacgaa gggtcaaatg
2041 gggagatcac atatgaaatc cttgttgggg ctcagggaga cttcatcatc aataaaacaa
2101 cagggcttat caccatcgct ccaggggtgg aaatgatagt cgggcggact tacgcactca
2161 cggtccaagc agcggataat gctcctcctg cagagcgaag gaactccatc tgcactgtgt
2221 atattgaagt gcttccacca aataatcaaa gccctcctcg cttcccacag ctgatgtata
2281 gccttgaaat tagtgaagcc atgagggttg gtgctgtttt attaaatcta caggcaactg
2341 atcgagaggg agactcaata acatatgcca ttgagaatgg agatcctcag agagttttta
2401 atctttcaga aaccacgggg attctaacct tagggaaagc actggacagg gaaagcactg
2461 atcgctacat tctgatcatc acagcttcag atggcaggcc agatgggacc tcaactgcca
2521 cagtaaacat agtggtgaca gatgtcaatg acaatgctcc agtgtttgat ccttatctgc
2581 caagaaattt atctgtggtg gaagaagaag ccaatgcctt tgtgggtcaa gtaaaagcaa
2641 cagaccctga tgctggaata aatggtcaag tgcactacag tttgggtaac tttaataatc
2701 tttttcgtat cacatccaat gggagcattt acacagcagt gaagcttaac agagaagtca
2761 gggactacta tgaacttgtt gttgtggcaa cagatggagc agtacaccct cgtcattcaa
2821 ctctaacctt ggccatcaag gttttggaca ttgatgataa cagtcctgtg ttcaccaatt
2881 caacatacac tgtccttgtt gaagagaatt tgccagctgg gactaccatc cttcaaatag
2941 aggccaaaga tgtcgacctt ggagcaaatg tgtcttaccg gataagaagc ccagaagtga
3001 agcacttttt tgcactacat ccatttacag gagaactatc gcttttaagg agtttagatt
3061 atgaggcatt tccagaccaa gaagcaagta tcacttttct ggtagaggcc tttgatattt
3121 atggaacaat gccacctggt attgctactg tcacagtgat tgtaaaggat atgaatgatt
3181 atcctcctgt ctttagtaaa cgaatataca aagggatggt ggctccggat gcagtcaagg
3241 gtacacctat cacaacagtt tatgctgaag atgcagaccc tcctggatta cctgcaagtc
3301 gtgtgaggta tagagtagat gatgtacagt ttccttaccc tgccagtatt tttgaagtgg
3361 aagaagattc tggaagagta ataacacgag tcaatcttaa tgaagaacct acaacaattt
3421 ttaagttggt ggtggttgct tttgatgatg gggagcctgt gatgtccagc agtgccacag
3481 tgaagattct tgtcttacat cctggtgaga tcccacgctt cacacaggag gaatatagac
3541 ctcctccagt aagtgaactt gccaccaaag ggaccatggt tggtgtaatt tctgctgctg
3601 ccattaatca aagtattgtg tactccattg tttcaggaaa tgaagaagat acatttggaa
3661 ttaataacat cacaggtgtt atctatgtga atggacctct ggattatgag accaggacaa
3721 gctatgtact tcgagtccaa gctgattccc tggaagtggt ccttgccaat ctccgagttc
3781 cttcaaaaag caatacagct aaagtataca ttgagattca ggatgaaaat aatcatcccc
3841 cagtgtttca gaaaaaattc tacatcggag gtgtatctga agatgcaaga atgtttactt
3901 ctgtactcag agtgaaggct actgataaag atactggcaa ttatagtgtc atggcctaca
3961 gactcataat accaccaatt aaagagggaa aagaaggatt tgtagtggaa acatatacag
4021 ggcttatcaa aactgctatg ctcttccata atatgaggag atcctacttc aagtttcaag
4081 ttattgcaac tgacgactat gggaagggac tgagcggcaa agccgatgta ctcgtctccg
4141 tggtcaatca gctggatatg caagtcattg tttccaatgt gcctcctact ctagtggaaa
4201 aaaagataga agatcttaca gagatcttgg atcgctatgt tcaggaacaa attcctggtg
4261 ccaaggtcgt agtggagtcc attggagctc gccggcatgg agatgccttt tccctagaag
4321 attacaccaa atgtgacttg actgtctatg caattgaccc ccaaaccaac agagccatcg
4381 atagaaatga gctttttaaa tttttggatg gcaaactact tgatatcaat aaagactttc
4441 agccgtatta tggggaagga ggacgcattc tggagatccg gactccagag gcagtgacca
4501 gcattaaaaa gagaggagaa agtctaggat acacagaagg ggccttgttg gctctggcct
4561 tcatcatcat cctctgctgc attcctgcca tcttggtggt tttggtcagc tacagacagt
4621 ttaaagtacg tcaagctgag tgtacaaaga ctgcacgaat tcaggccgca ttacccgcgg
4681 ctaaaccagc agtgccggct cctgcaccag tggcagcgcc cccgccgccg ccgccgcctc
4741 cgccaggtgc gcatctctat gaagaacttg gagacagctc aatgtatgaa atgcctcaat
4801 atgggagtcg ccgtcgattg ttaccaccag ctggacagga ggaatatggt gaggtggttg
4861 gtgaagctga ggaagaatat gaggaggaag aggaagagcc aaagaaaatt aaaaaaccaa
4921 aggttgaaat tagagagcct agtgaggagg aagaagtagt tgtaactatc gaaaaaccac
4981 cagcagctga gcctacatac acaacatgga agagagccag aatattcccc atgattttta
5041 agaaagttag aggattagct gataaaagag gaatcgttga ccttgagggt gaagagtggc
5101 agagacgcct tgaggaagaa gataaagatt atttgaaact cactctggac caagaggaag
5161 caacagaaag cactgtagaa tcagaggagg aatcctccag cgactatact gaatacagtg
5221 aagaagagtc tgagttcagt gagtctgaga ctacagaaga ggaatctgag tcagagacac
5281 cctctgagga ggaggagagt tccacccctg aatcagaaga atcggaatcc acagagtcag
5341 aaggagaaaa agcaaggaaa aacattgtgc ttgcaagaag aaggcccatg gttgaggagg
5401 tcaaggaagt caagggtagg aaagaggagc cacaagaaga acaaaaagaa cctaagatgg
5461 aagaagaaga acactcagaa gaagaagaaa gtggaccagc ccctgtggaa gaaagtacag
5521 accctgaagc tcaagatatc cctgaagagg gcagtgcaga atcagcttcg gtggaaggag
5581 gtgtggaaag tgaggaggaa tcagaatcag gtagtagtag cagtagtagc gaaagtcagt
5641 ctggaggtcc atggggctat caggtaccag cgtatgacag aagcaagaat gcaaaccaaa
5701 agaagtcgcc aggagcaaac tctgaaggtt acaacacagc actttgaaag agatcacagt
5761 aggtggaagt tttgctgtga tgagtgctct cgtgtgcagt gccttctgtg tgttctccaa
5821 agtgacactt gaaagggagg aaattgatca agattttgat atgacttatg atcagaagca
5881 tgccagaaaa gtgaatatat atgttgtcca aatccat
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