Variant position: 781 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:
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 LMVTCTVYAIKARGVPETFN EAKPIGFTMYTTCIIWLAFVP
Mouse LMVTCTVYAIKARGVPETFN EAKPIGFTMYTTCIIWLAFVP
Rat LMVTCTVYAIKARGVPETFN EAKPIGFTMYTTCIIWLAFVP
Rabbit LMVTCTVYAIKARGVPETFN EAKPIGFTMYTTCIVWLAFVP
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
25 – 877 Metabotropic glutamate receptor 6
771 – 783 Cytoplasmic
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
Dryja T.P.; McGee T.L.; Berson E.L.; Fishman G.A.; Sandberg M.A.; Alexander K.R.; Derlacki D.J.; Rajagopalan A.S.;
Proc. Natl. Acad. Sci. U.S.A. 102:4884-4889(2005)
Cited for: VARIANTS CSNB1B SER-150 AND LYS-781;
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;
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.