Home  |  Contact

UniProtKB/Swiss-Prot O15303: Variant p.Cys522Tyr

Metabotropic glutamate receptor 6
Gene: GRM6
Variant information Variant position: help 522 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 Cysteine (C) to Tyrosine (Y) at position 522 (C522Y, p.Cys522Tyr). 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 medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CSNB1B; abolishes expression at the cell membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 522 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 877 The length of the canonical sequence.
Location on the sequence: help EALQWSGDPHEVPSSLCSLP C GPGERKKMVKGVPCCWHCEA 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.




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.
Chain 25 – 877 Metabotropic glutamate receptor 6
Topological domain 25 – 585 Extracellular
Disulfide bond 244 – 536
Disulfide bond 518 – 537
Disulfide bond 522 – 540

Literature citations
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking.
Zeitz C.; Forster U.; Neidhardt J.; Feil S.; Kalin S.; Leifert D.; Flor P.J.; Berger W.;
Hum. Mutat. 28:771-780(2007)
Cited for: VARIANTS CSNB1B LEU-46; ARG-58; SER-150; THR-405; TYR-522 AND LYS-781; VARIANT PRO-59; CHARACTERIZATION OF VARIANT PRO-59; CHARACTERIZATION OF VARIANTS CSNB1B LEU-46; ARG-58; SER-150; THR-405; TYR-522 AND LYS-781; SUBUNIT; SUBCELLULAR LOCATION; Genotype and phenotype of 101 Dutch patients with congenital stationary night blindness.
Bijveld M.M.; Florijn R.J.; Bergen A.A.; van den Born L.I.; Kamermans M.; Prick L.; Riemslag F.C.; van Schooneveld M.J.; Kappers A.M.; van Genderen M.M.;
Ophthalmology 120:2072-2081(2013)
Cited for: VARIANTS CSNB1B LEU-46; ARG-58 AND TYR-522;
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.