Variant position: 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 694 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EISILNIKGSKSGNRRTANI RSIGYSDLFCLSKDDLMEALT
Mouse EISILNIKGSKSGNRRTANI RSIGYSDLFCLSKDDLMEALT
Bovine EISILNIKGSKSGNRRTANI RSIGYSDLFCLSKDDLMEALT
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 694 Cyclic nucleotide-gated cation channel alpha-3
503 – 694 Cytoplasmic
482 – 605 cGMP
549 – 549 cGMP
564 – 564 cGMP
CNGA3 mutations in hereditary cone photoreceptor disorders.
Wissinger B.; Gamer D.; Jaegle H.; Giorda R.; Marx T.; Mayer S.; Tippmann S.; Broghammer M.; Jurklies B.; Rosenberg T.; Jacobson S.G.; Sener E.C.; Tatlipinar S.; Hoyng C.B.; Castellan C.; Bitoun P.; Andreasson S.; Rudolph G.; Kellner U.; Lorenz B.; Wolff G.; Verellen-Dumoulin C.; Schwartz M.; Cremers F.P.M.; Apfelstedt-Sylla E.; Zrenner E.; Salati R.; Sharpe L.T.; Kohl S.;
Am. J. Hum. Genet. 69:722-737(2001)
Cited for: VARIANTS ACHM2 VAL-162; LEU-163; CYS-181; TYR-182; PHE-186; TYR-191; LYS-194; TRP-223; ARG-224; ASN-260; ASP-267; CYS-277; HIS-277; TRP-283; GLN-283; ARG-291; ILE-312 DEL; PRO-341; SER-369; SER-372; SER-380; THR-406; TRP-410; CYS-427; TRP-436; SER-471; VAL-485; SER-510; GLU-513; GLU-516; THR-522; ASP-525; MET-529; LEU-547; ARG-557; HIS-563; MET-565; HIS-569; CYS-573 AND LYS-593;
Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.
Johnson S.; Michaelides M.; Aligianis I.A.; Ainsworth J.R.; Mollon J.D.; Maher E.R.; Moore A.T.; Hunt D.M.;
J. Med. Genet. 41:E20-E20(2004)
Cited for: VARIANTS ACHM2 TRP-223; TRP-436; LEU-547; ARG-548 AND HIS-569;
Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
Li F.F.; Huang X.F.; Chen J.; Yu X.D.; Zheng M.Q.; Lu F.; Jin Z.B.; Gan D.K.;
J. Transl. Med. 13:334-334(2015)
Cited for: VARIANTS ACHM2 ASP-323 AND HIS-569;
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