LOCUS AF272900 4369 bp mRNA linear HUM 29-AUG-2000
DEFINITION Homo sapiens cone photoreceptor cyclic nucleotide-gated channel
beta subunit (CNGB3) mRNA, complete cds.
ACCESSION AF272900
VERSION AF272900.1
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 4369)
AUTHORS Kohl,S., Baumann,B., Broghammer,M., Jagle,H., Sieving,P.,
Kellner,U., Spegal,R., Anastasi,M., Zrenner,E., Sharpe,L.T. and
Wissinger,B.
TITLE Mutations in the CNGB3 gene encoding the beta-subunit of the cone
photoreceptor cGMP-gated channel are responsible for achromatopsia
(ACHM3) linked to chromosome 8q21
JOURNAL Hum. Mol. Genet. 9 (14), 2107-2116 (2000)
PUBMED 10958649
REFERENCE 2 (bases 1 to 4369)
AUTHORS Wissinger,B. and Kohl,S.
TITLE Direct Submission
JOURNAL Submitted (30-MAY-2000) University Eye Hospital, Molecular Genetics
Laboratory, Auf der Morgenstelle 15, Tuebingen D-72076, Germany
FEATURES Location/Qualifiers
source 1..4369
/db_xref="H-InvDB:HIT000075848"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
gene 1..4369
/gene="CNGB3"
CDS 47..2476
/gene="CNGB3"
/codon_start=1
/product="cone photoreceptor cyclic nucleotide-gated
channel beta subunit"
/protein_id="AAF86274.1"
/translation="MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQE
ENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSGDLTTNPDPQNAAEPTGTVPEQK
EMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLY
LLWLLLVTLAYNWNCWFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQ
FVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFNPMFRANRMLKYTSF
FEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGN
EYLRCYYWAVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATA
NQNYFRACMDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQRMLDESDLLKTLPTTVQL
ALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKEMYIIKH
GEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTL
QEILVHYPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGG
TGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDK
DKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEV
LTIEVKEKAKQ"
BASE COUNT 1470 a 854 c 848 g 1197 t
ORIGIN
1 ggcacagtca taaatacaga gggttttcag aaccacctca gagaagatgt ttaaatcgct
61 gacaaaagtc aacaaggtga agcctatagg agagaacaat gagaatgaac aaagttctcg
121 tcggaatgaa gaaggctctc acccaagtaa tcagtctcag caaaccacag cacaggaaga
181 aaacaaaggt gaagagaaat ctctcaaaac caagtcaact ccagtcacgt ctgaagagcc
241 acacaccaac atacaagaca aactctccaa gaaaaattcc tctggagatc tgaccacaaa
301 ccctgaccct caaaatgcag cagaaccaac tggaacagtg ccagagcaga aggaaatgga
361 ccccgggaaa gaaggtccaa acagcccaca aaacaaaccg cctgcagctc ctgttataaa
421 tgagtatgcc gatgcccagc tacacaacct ggtgaaaaga atgcgtcaaa gaacagccct
481 ctacaagaaa aagttggtag agggagatct ctcctcaccc gaagccagcc cacaaactgc
541 aaagcccacg gctgtaccac cagtaaaaga aagcgatgat aagccaacag aacattacta
601 caggctgttg tggttcaaag tcaaaaagat gcctttaaca gagtacttaa agcgaattaa
661 acttccaaac agcatagatt catacacaga tcgactctat ctcctgtggc tcttgcttgt
721 cactcttgcc tataactgga actgctggtt tataccactg cgcctcgtct tcccatatca
781 aaccgcagac aacatacact actggcttat tgcggacatc atatgtgata tcatctacct
841 ttatgatatg ctatttatcc agcccagact ccagtttgta agaggaggag acataatagt
901 ggattcaaat gagctaagga aacactacag gacttctaca aaatttcagt tggatgtcgc
961 atcaataata ccatttgata tttgctacct cttctttggg tttaatccaa tgtttagagc
1021 aaataggatg ttaaagtaca cttcattttt tgaatttaat catcacctag agtctataat
1081 ggacaaagca tatatctaca gagttattcg aacaactgga tacttgctgt ttattctgca
1141 cattaatgcc tgtgtttatt actgggcttc aaactatgaa ggaattggca ctactagatg
1201 ggtgtatgat ggggaaggaa acgagtatct gagatgttat tattgggcag ttcgaacttt
1261 aattaccatt ggtggccttc cagaaccaca aactttattt gaaattgttt ttcaactctt
1321 gaattttttt tctggagttt ttgtgttctc cagtttaatt ggtcagatga gagatgtgat
1381 tggagcagct acagccaatc agaactactt ccgcgcctgc atggatgaca ccattgccta
1441 catgaacaat tactccattc ctaaacttgt gcaaaagcga gttcggactt ggtatgaata
1501 tacatgggac tctcaaagaa tgctagatga gtctgatttg cttaagaccc taccaactac
1561 ggtccagtta gccctcgcca ttgatgtgaa cttcagcatc atcagcaaag tcgacttgtt
1621 caagggttgt gatacacaga tgatttatga catgttgcta agattgaaat ccgttctcta
1681 tttgcctggt gactttgtct gcaaaaaggg agaaattggc aaggaaatgt atatcatcaa
1741 gcatggagaa gtccaagttc ttggaggccc tgatggtact aaagttctgg ttactctgaa
1801 agctgggtcg gtgtttggag aaatcagcct tctagcagca ggaggaggaa accgtcgaac
1861 tgccaatgtg gtggcccacg ggtttgccaa tcttttaact ctagacaaaa agaccctcca
1921 agaaattcta gtgcattatc cagattctga aaggatcctc atgaagaaag ccagagtgct
1981 tttaaagcag aaggctaaga ccgcagaagc aacccctcca agaaaagatc ttgccctcct
2041 cttcccaccg aaagaagaga cacccaaact gtttaaaact ctcctaggag gcacaggaaa
2101 agcaagtctt gcaagactac tcaaattgaa gcgagagcaa gcagctcaga agaaagaaaa
2161 ttctgaagga ggagaggaag aaggaaaaga aaatgaagat aaacaaaaag aaaatgaaga
2221 taaacaaaaa gaaaatgaag ataaaggaaa agaaaatgaa gataaagata aaggaagaga
2281 gccagaagag aagccactgg acagacctga atgtacagca agtcctattg cagtggagga
2341 agaaccccac tcagttagaa ggacagtttt acccagaggg acttctcgtc aatcactcat
2401 tatcagcatg gctccttctg ctgagggcgg agaagaggtt cttactattg aagtcaaaga
2461 aaaggctaag caataaatgt ttgattatct ttagatgtga tatagctagt tcccaaagtg
2521 attgtaccta ggattgtaac ttaaattaac gaggggaaac gacatgctgg gacccttgag
2581 aaacgaaagg caaatcccta gcttagtttc taggacttat ctgagagtgt gatttcatgc
2641 agtggtaata agaagattat taaaagccat ccctattctc cgttttcatt aactttatgc
2701 aattgctata tcttctaatt gtatgtagta agtttccttt tcctttggtt ctttcctgat
2761 gatgtctctt ccttccagtt ttattagctt gctcttggct gtgatgtgat tcactaacct
2821 tttctcttaa tttttattgt gtttaatttc ttctttggca ctctaaagcc tggctaattg
2881 ttctaggttt atgaatttca cctcttacat gtaaagggta taagatttta atgtaatagg
2941 tcaaaaatca gattattttc attcaaatga ggatgatgag tcactgtaat atcaaaaaat
3001 ccccagcagc tgggactgaa gggaagcaga gatcatgaag ctttctgaat gagaagtctg
3061 atttttggaa cagtcccctg aagaccaatg ttggtcggca gaattagcaa actggcaaaa
3121 tcacattgca ggaacatatt ggaaaaattg taccctttac taaagaaata aacttcaata
3181 ttttctcttc taaccaactt aaaagacacc aatctaccta actcatctgg ctcaagggac
3241 ttggactgga ggatacaggc taaagtgaca cttatcagaa tcttcctcaa gcacttgctg
3301 gaaaagatat cagattggaa cttcttgttt aaaattaagc tttagtaaaa caaagtgatg
3361 aggttaggaa ggcagactct acacatgtca gattgacata tccccacaat ttccggaacc
3421 tacatgtata gctgtttaca aaatctccaa gttaattaag ggcactttag aagttgtcct
3481 catgaattag ctagcattag cataattacc gacgttgcat gctgtgagga ggctacaaag
3541 gccaggctgg tgtcggaagt aataatacat atagaaattc cattctaata aatgccatta
3601 gtgtataaca tcaagttctg tgtaatgagg ctatttccaa gtcccccaaa gatggtcact
3661 gttacagcac tttgctgaga gggttttaac aaatcatatt agccaaaaag cctacaacat
3721 agatgcattt agcaaaccat gtacaaatca atcactataa taaactgcat catttgatag
3781 agtcaccgtt tttgcatgta gtgttagagt atcacaaaat ataacaagtt ttactaaagg
3841 atggttggtt ttttcaggat ttaagggaat atggacaaat tgttaaatag tatttatttg
3901 ataaatggga gtttgtatgc agaaagagtg aattgcgtat aaaaagggtg atttaaaaac
3961 ccagaaacaa aaggtagaat agggctgaag catctgataa taggaaaaga aaaggacaaa
4021 agtcctcaac ttgtgagcaa tatgctttcc ctttacaccc tgtaatttat tcaaatgata
4081 ttaaaataca agaccattgc aatttatgct tttcgcctgg cagttatttt cccccccaag
4141 ctatcctgtt tcagataata tcaatttatt tccaatccat cagactaaaa tctaagaaaa
4201 ttcaagaact cttttattgt tgatttggtg ccaccaaatt ctttttcttt ttaaatcttt
4261 ctaattatcc tttctttttc aatcccattg ctaacaccca gaacatattt tctgttcaat
4321 gcaaataaac attcactttt tacctaaaaa aaacaaaaaa aaaaaaaaa
//