Variant position: 658 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 915 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 LCYIITFLMIAKPDVAVCSF RRVFLGLGMCISYAALLTKTN
Mouse LCYIITFLMIAKPDVAVCSF RRVFLGLGMCISYAALLTKTN
Rat LCYIITFLMIAKPDVAVCSF RRVFLGLGMCISYAALLTKTN
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
35 – 915 Metabotropic glutamate receptor 7
655 – 675 Helical; Name=3
658 – 658 R -> W. Does not rescue axon outgrowth defects when expressed in an heterologous system; when associated with K-675. Decreased protein abundance due to increased proteasomal degradation; when associated with K-675. Loss of localization to the cell membrane; when associated with K-675.
675 – 675 T -> K. Does not rescue axon outgrowth defects when expressed in an heterologous system; when associated with W-658. Decreased protein abundance due to increased proteasomal degradation; when associated with W-658. Loss of localization to the cell membrane; when associated with W-658.
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
Charng W.L.; Karaca E.; Coban Akdemir Z.; Gambin T.; Atik M.M.; Gu S.; Posey J.E.; Jhangiani S.N.; Muzny D.M.; Doddapaneni H.; Hu J.; Boerwinkle E.; Gibbs R.A.; Rosenfeld J.A.; Cui H.; Xia F.; Manickam K.; Yang Y.; Faqeih E.A.; Al Asmari A.; Saleh M.A.; El-Hattab A.W.; Lupski J.R.;
BMC Med. Genomics 9:42-42(2016)
Cited for: INVOLVEMENT IN NEDSHBA; VARIANTS NEDSHBA THR-154; TRP-658 AND LYS-675;
Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy.
Marafi D.; Mitani T.; Isikay S.; Hertecant J.; Almannai M.; Manickam K.; Abou Jamra R.; El-Hattab A.W.; Rajah J.; Fatih J.M.; Du H.; Karaca E.; Bayram Y.; Punetha J.; Rosenfeld J.A.; Jhangiani S.N.; Boerwinkle E.; Akdemir Z.C.; Erdin S.; Hunter J.V.; Gibbs R.A.; Pehlivan D.; Posey J.E.; Lupski J.R.;
Ann. Clin. Transl. Neurol. 7:610-627(2020)
Cited for: VARIANTS NEDSHBA THR-154; 586-TRP--ILE-915 DEL; GLN-658; TRP-658; 659-ARG--ILE-915 DEL; LYS-675 AND LYS-891;
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.