Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12879: Variant p.Met817Val

Glutamate receptor ionotropic, NMDA 2A
Gene: GRIN2A
Feedback?
Variant information Variant position: help 817 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Methionine (M) to Valine (V) at position 817 (M817V, p.Met817Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In FESD; pathogenic; gain-of-function characterized by enhanced agonist potency, reduced sensitivity to endogenous negative inhibitors, prolonged synaptic-like response time course, increased single-channel mean open time and increased channel open probability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 817 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1464 The length of the canonical sequence.
Location on the sequence: help TGICHNEKNEVMSSQLDIDN M AGVFYMLAAAMALSLITFIW 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIW

Chimpanzee                    TGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIW

Mouse                         TGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIW

Rat                           TGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIW

Xenopus laevis                TGICHTEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFVW
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 23 – 1464 Glutamate receptor ionotropic, NMDA 2A
Transmembrane 817 – 837 Helical
Turn 814 – 817



Literature citations
Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.
Venkateswaran S.; Myers K.A.; Smith A.C.; Beaulieu C.L.; Schwartzentruber J.A.; Majewski J.; Bulman D.; Boycott K.M.; Dyment D.A.;
Epilepsia 55:E75-E79(2014)
Cited for: VARIANT FESD VAL-817; Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy.
Chen W.; Tankovic A.; Burger P.B.; Kusumoto H.; Traynelis S.F.; Yuan H.;
Mol. Pharmacol. 91:317-330(2017)
Cited for: CHARACTERIZATION OF VARIANT FESD VAL-817; GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V.; Heyne H.O.; Vlaskamp D.R.M.; Marwick K.F.M.; Rudolf G.; de Bellescize J.; Biskup S.; Brilstra E.H.; Brouwer O.F.; Callenbach P.M.C.; Hentschel J.; Hirsch E.; Kind P.C.; Mignot C.; Platzer K.; Rump P.; Skehel P.A.; Wyllie D.J.A.; Hardingham G.E.; van Ravenswaaij-Arts C.M.A.; Lesca G.; Lemke J.R.;
Brain 142:80-92(2019)
Cited for: VARIANTS FESD GLN-411; SER-498; CYS-518; VAL-532; GLN-611; SER-614; THR-635; GLY-644; SER-648; VAL-649; PRO-649; ILE-653; THR-654; ALA-684; GLN-695; GLY-713; THR-716; ASN-731; THR-733; ARG-809; VAL-817 AND GLU-818;
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.