LOCUS AF254868 2297 bp mRNA linear HUM 28-DEC-2000
DEFINITION Homo sapiens nyctalopin mRNA, complete cds.
ACCESSION AF254868
VERSION AF254868.1
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 2297)
AUTHORS Bech-Hansen,N.T., Naylor,M.J., Maybaum,T.A., Sparkes,R.L., Koop,B.,
Birch,D.G., Bergen,A.A., Prinsen,C.F., Polomeno,R.C., Gal,A.,
Drack,A.V., Musarella,M.A., Jacobson,S.G., Young,R.S. and
Weleber,R.G.
TITLE Mutations in NYX, encoding the leucine-rich proteoglycan
nyctalopin, cause X-linked complete congenital stationary night
blindness
JOURNAL Nat. Genet. 26 (3), 319-323 (2000)
PUBMED 11062471
REFERENCE 2 (bases 1 to 2297)
AUTHORS Bech-Hansen,N.T., Maybaum,T.A. and Naylor,M.J.
TITLE Direct Submission
JOURNAL Submitted (10-APR-2000) Medical Genetics, University of Calgary,
3330 Hospital Dr. N.W., Calgary, AB T2N 4N1, Canada
FEATURES Location/Qualifiers
source 1..2297
/db_xref="H-InvDB:HIT000075127"
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xp11.4"
CDS 99..1544
/codon_start=1
/product="nyctalopin"
/protein_id="AAG42685.1"
/translation="MKGRGMLVLLLHAVVLGLPSAWAVGACARACPAACACSTVERGC
SVRCDRAGLLRVPAELPCEAVSIDLDRNGLRFLGERAFGTLPSLRRLSLRHNNLSFIT
PGAFKGLPRLAELRLAHNGDLRYLHARTFAALSRLRRLDLAACRLFSVPERLLAELPA
LRELAAFDNLFRRVPGALRGLANLTHAHLERGRIEAVASSSLQGLRRLRSLSLQANRV
RAVHAGAFGDCGVLEHLLLNDNLLAELPADAFRGLRRLRTLNLGGNALDRVARAWFAD
LAELELLYLDRNSIAFVEEGAFQNLSGLLALHLNGNRLTVLAWVAFQPGFFLGRLFLF
RNPWCCDCRLEWLRDWMEGSGRVTDVPCASPGSVAGLDLSQVTFGRSSDGLCVDPEEL
NLTTSSPGPSPEPAATTVSRFSSLLSKLLAPRVPVEEAANTTGGLANASLSDSLSSRG
VGGAGRQPWFLLASCLLPSVAQHVVFGLQMD"
BASE COUNT 379 a 749 c 750 g 419 t
ORIGIN
1 ggctgaggga gtggaggggg acctcagagg agcaggacca gggagactcc caggacggta
61 ggggtcccac ggctgggtgg tcctaagcca ctgggtggat gaaaggccga gggatgttgg
121 tcctgcttct gcatgcggtg gtcctcggcc tgcccagcgc ctgggccgtg ggggcctgcg
181 cccgcgcttg tcccgccgcc tgcgcctgca gcaccgtgga gcgcggctgc tcggtgcgct
241 gcgaccgcgc gggcctcctg cgggtgccgg ccgagctccc gtgcgaggcg gtctccatcg
301 acctggaccg gaacggcctg cgcttcctgg gcgagcgagc cttcggcacg ctgccgtcct
361 tgcgccgcct gtcgctgcgc cacaacaacc tgtccttcat cacgcccggc gccttcaagg
421 gcctgccgcg cctggctgag ctgcgcctgg cgcacaacgg cgacctgcgc tacctgcacg
481 cgcgcacctt cgcggcgctc agccgcctgc gccgcctaga cctagcagcc tgccgcctct
541 tcagcgtgcc cgagcgcctc ctggccgaac tgccggccct gcgcgaactc gccgccttcg
601 acaacctgtt ccgccgcgtg ccgggcgcgc tgcgcggcct ggccaacctg acgcacgcgc
661 acctggagcg cggccgcatc gaggcggtgg cctccagctc gctgcagggc ctgcgccgcc
721 tgcgctcgct cagcctgcag gccaaccgcg tccgtgccgt gcacgctggc gccttcgggg
781 actgtggcgt cctggagcat ctgctgctca acgacaacct gctggccgag ctcccggccg
841 acgccttccg cggcctgcgg cgcctgcgca cgctcaacct gggtggcaac gcgctggacc
901 gcgtggcgcg cgcctggttc gctgacctgg ccgagctcga gctgctctac ctggaccgca
961 acagcatcgc cttcgtggag gagggcgcct tccagaacct ctcgggtctc ctcgcgctgc
1021 acctcaacgg caaccgcctc accgtgctcg cctgggtcgc cttccagccc ggcttcttcc
1081 tgggccgcct cttcctcttc cgcaacccgt ggtgctgcga ctgccgtctg gagtggctga
1141 gggactggat ggagggctcc ggacgtgtca ccgacgtgcc gtgcgcctcc ccgggctccg
1201 tggccggcct ggacctcagc caggtgacct tcgggcgctc ctccgatggc ctctgtgtgg
1261 accccgagga gctgaacctc accacgtcca gtccaggccc gtccccagaa ccagcggcca
1321 ccaccgtgag caggttcagc agcctcctct ccaagctgct ggccccgagg gtcccggtgg
1381 aggaggcggc caacaccact ggggggctgg ccaacgcctc cctgtccgac agcctctcct
1441 cccgtggggt gggaggcgcg ggccggcagc cctggtttct cctcgcctct tgtctcctgc
1501 ccagcgtggc ccagcacgtg gtgtttggcc tgcagatgga ctgacctggc cagagggggg
1561 aaagtttgct taactgggct tgagtgtgtt tgtggtaagg ggagaggagc cggaatggag
1621 ggcagaggtg aaaatcccag tggagggtgg aaggaaccgt ttgcctccag agatggcccc
1681 agggagaaca cagggacgtg ccactcgagg gggaggatgg tatggatttc tgcttttgtc
1741 acacgggcat ccattggaaa agagaagcaa gaatgaacgt gggccctcgg gtgggaagac
1801 taggaatcgg aagcttctag ggcttcacat cccttcccct cccctcccct tcccctcatc
1861 ttccaggcaa cagtgcctgc aaggcctgaa ttagagagac ttccattggc taagtagtta
1921 agagccgtcc catttctcct ggcggggtaa cccattacac cgaagtcctt tgttttctac
1981 cacaatcctc ctcctcctct ccaggggcct ggaaacacta ggattcagga aggtaggcag
2041 gacgtgagag aagggagatg ggagagagat ttaagacaaa gggtggcggt ggttcctggg
2101 gtctgagatg tgttaggagg cgtttaaaac aaagatccag ttcatttact ccacagttat
2161 tcccagggct ggccctagcc acaaaggaac tttagggcag ggtagggaaa aaaggggcag
2221 cagggggtgt gtttgtggac aaataaattt gtaaagtccg aggattaaaa aaaaaaaaag
2281 gttaaaccgg tttctct
//