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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16281: Variant p.Ser570Asn

Cyclic nucleotide-gated channel alpha-3
Gene: CNGA3
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Variant information Variant position: help 570
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Asparagine (N) at position 570 (S570N, p.Ser570Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help Found in patients with cone-rod dystrophy; likely pathogenic.


Sequence information Variant position: help 570
Protein sequence length: help 694
Location on the sequence: help ISILNIKGSKSGNRRTANIR S IGYSDLFCLSKDDLMEALTE
Residue conservation: help 
Human                         ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE

Mouse                         ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE

Rat                           ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMETLTE

Bovine                        ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 694 Cyclic nucleotide-gated channel alpha-3
Topological domain 404 – 694 Cytoplasmic
Region 488 – 608 Cyclic nucleotide-binding domain
Binding site 551 – 551
Binding site 564 – 564
Binding site 565 – 565
Beta strand 566 – 572



Literature citations
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;
Disclaimer: 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.