Variant position: 46 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 LARAAGSVRLAGGLTLGGLF PVHARGAAGRACGQLKKEQGV
Mouse IAHGAGSVRLAGGLTLGGLF PVHARGAAGRACGTLKKEQGV
Rat IACGAGSVRLAGGLTLGGLF PVHARGAAGRACGALKKEQGV
Rabbit PVRAAGSVRLAGGLTLGGLF PVHARGAAGRACGQLKKEQGV
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
25 – 585 Extracellular
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.;
Cited for: VARIANTS CSNB1B LEU-46; ARG-58 AND TYR-522;
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