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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16281: Variant p.Arg283Gln

Cyclic nucleotide-gated channel alpha-3
Gene: CNGA3
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Variant information Variant position: help 283 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 Arginine (R) to Glutamine (Q) at position 283 (R283Q, p.Arg283Gln). 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 large size and basic (R) to medium size and polar (Q) 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 In ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is not significantly different from that of wild-type CNGA3; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; a substantial reduction of macroscopic cGMP maximum current to only one-third of the mean value for wild-type CNGA3 + CNGB3 is observed for the mutant CNGA3 + CNGB3; the channel density into the cell membrane is considerably improved by decreasing the cultivation temperature. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 283 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 YLKVGTNYPEVRFNRLLKFS R LFEFFDRTETRTNYPNMFRI 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                         YLKVGTNYPEVRFNRLLKFSRLFEFFDRTETRTNYPNMFRI

Mouse                         YLKLGVNYPELRFNRLLKFSRLFEFFDRTETRTNYPNVFRI

Rat                           YLKLGMNYPELRFNRLLRFSRLFEFFDRTETRTNYPNVFRI

Bovine                        YFKLGMNYPELRFNRLLKLARLFEFFDRTETRTNYPNMFRI
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
Transmembrane 271 – 288 Helical; Name=S4
Helix 281 – 294



Literature citations
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Kohl S.; Marx T.; Giddings I.; Jaegle H.; Jacobson S.G.; Apfelstedt-Sylla E.; Zrenner E.; Sharpe L.T.; Wissinger B.;
Nat. Genet. 19:257-259(1998)
Cited for: VARIANTS ACHM2 LEU-163; GLN-283; TRP-283; ARG-291; TRP-410; MET-529; LEU-547 AND ARG-557; VARIANT MET-153; 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; 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;
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.