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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 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Serine (S) to Asparagine (N) at position 570 (S570N, p.Ser570Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help Found in patients with cone-rod dystrophy; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 570 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 694 The length of the canonical sequence.
Location on the sequence: help ISILNIKGSKSGNRRTANIR S IGYSDLFCLSKDDLMEALTE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE

Mouse                         ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE

Rat                           ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMETLTE

Bovine                        ISILNIKGSKSGNRRTANIRSIGYSDLFCLSKDDLMEALTE
Sequence annotation in neighborhood: help 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.
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.