Variant position: 590 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 SIGYSDLFCLSKDDLMEALT EYPEAKKALEEKGRQILMKDN
Mouse SIGYSDLFCLSKDDLMEALT EYPDAKRALEEKGRQILMKDN
Bovine SIGYSDLFCLSKDDLMEALT EYPEAKKALEEKGRQILMKDN
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 3',5'-cGMP
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
Nishiguchi K.M.; Sandberg M.A.; Gorji N.; Berson E.L.; Dryja T.P.;
Hum. Mutat. 25:248-258(2005)
Cited for: VARIANTS ACHM2 TRP-223; SER-249; ASP-263; CYS-277; PRO-341; PRO-401; TRP-410; CYS-427; TRP-436; MET-529; MET-565 AND LYS-590; VARIANTS LEU-48 AND MET-153;
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.
Reuter P.; Koeppen K.; Ladewig T.; Kohl S.; Baumann B.; Wissinger B.;
Hum. Mutat. 29:1228-1236(2008)
Cited for: VARIANTS ACHM2 LYS-228; CYS-277; GLN-283; TRP-439; THR-469; LEU-547 AND ARG-557; CHARACTERIZATION OF VARIANTS ACHM2 LYS-228; GLN-283; ARG-291; TRP-439; THR-469; LEU-547; ARG-557 AND LYS-590;
Identification of CNGA3 mutations in 46 Families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
Li S.; Huang L.; Xiao X.; Jia X.; Guo X.; Zhang Q.;
JAMA Ophthalmol. 132:1076-1083(2014)
Cited for: VARIANTS ASP-120; LYS-198; ILE-224; MET-247; ARG-258; SER-330; PHE-334; HIS-533; ASN-570 AND HIS-646; VARIANTS ACHM2 CYS-171; TRP-223; GLN-223; ASN-260; LYS-274; HIS-277; CYS-277; PRO-278; TRP-283; SER-322; TRP-436; GLN-436; TRP-439; MET-529; 543-ASP--SER-545 DEL AND LYS-590;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.