Sequence information
Variant position: 58 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 877 The length of the canonical sequence.
Location on the sequence:
GLTLGGLFPVHARGAAGRAC
G QLKKEQGVHRLEAMLYALDR
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 GLTLGGLFPVHARGAAGRACG QLKKEQGVHRLEAMLYALDR
Mouse GLTLGGLFPVHARGAAGRACG TLKKEQGVHRLEAMLYALDR
Rat GLTLGGLFPVHARGAAGRACG ALKKEQGVHRLEAMLYALDR
Rabbit GLTLGGLFPVHARGAAGRACG QLKKEQGVHRLEAMLYALDR
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
Chain
25 – 877
Metabotropic glutamate receptor 6
Topological domain
25 – 585
Extracellular
Disulfide bond
57 – 99
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.