Sequence information
Variant position: 154 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:
VRCTNGEPPVFVKPEKVVGV
I GASGSSVSIMVANILRLFQI
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 VRCTNGEPPVFVKPEKVVGVI GASGSSVSIMVANILRLFQI
Mouse VRCTNGEPPVFVKPEKVVGVI GASGSSVSIMVANILRLFQI
Rat VRCTNGEPPVFVKPEKVVGVI GASGSSVSIMVANILRLFQI
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
35 – 915
Metabotropic glutamate receptor 7
Topological domain
35 – 590
Extracellular
Binding site
159 – 159
Glutamate
Beta strand
150 – 154
Literature citations
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;
A GRM7 mutation associated with developmental delay reduces mGlu7 expression and produces neurological phenotypes.
Fisher N.M.; Alhashim A.; Buch A.B.; Badivuku H.; Samman M.M.; Weiss K.M.; Cestero G.I.; Does M.D.; Rook J.M.; Lindsley C.W.; Conn P.J.; Gogliotti R.G.; Niswender C.M.;
JCI Insight 6:0-0(2021)
Cited for: VARIANT NEDSHBA THR-154; CHARACTERIZATION OF VARIANT NEDSHBA THR-154; SUBUNIT;
Pathogenic GRM7 mutations associated with neurodevelopmental disorders impair axon outgrowth and presynaptic terminal development.
Song J.M.; Kang M.; Park D.H.; Park S.; Lee S.; Suh Y.H.;
J. Neurosci. 41:2344-2359(2021)
Cited for: CHARACTERIZATION OF VARIANTS NEDSHBA THR-154 AND 586-TRP--ILE-915 DEL; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; GLYCOSYLATION; MUTAGENESIS OF ARG-622; ARG-658 AND THR-675;
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.