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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12879: Variant p.Leu812Met

Glutamate receptor ionotropic, NMDA 2A
Gene: GRIN2A
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Variant information Variant position: help 812 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 Leucine (L) to Methionine (M) at position 812 (L812M, p.Leu812Met). 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 2 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; results in increased agonist potency and channel activation at lower glutamate concentrations compared to wild type channels; decrease in the actions of endogenous negative modulators; increase in channel open probability; prolonged deactivation time course. Any additional useful information about the variant.


Sequence information Variant position: help 812 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 ETLWLTGICHNEKNEVMSSQ L DIDNMAGVFYMLAAAMALSL 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                         ETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSL

Chimpanzee                    ETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSL

Mouse                         ETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSL

Rat                           ETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSL

Xenopus laevis                EKLWLTGICHTEKNEVMSSQLDIDNMAGVFYMLAAAMALSL
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
Topological domain 646 – 816 Extracellular



Literature citations
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
Yuan H.; Hansen K.B.; Zhang J.; Pierson T.M.; Markello T.C.; Fajardo K.V.; Holloman C.M.; Golas G.; Adams D.R.; Boerkoel C.F.; Gahl W.A.; Traynelis S.F.;
Nat. Commun. 5:3251-3251(2014)
Cited for: VARIANT FESD MET-812; CHARACTERIZATION OF VARIANT FESD MET-812; Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.
Shepard N.; Baez-Nieto D.; Iqbal S.; Kurganov E.; Budnik N.; Campbell A.J.; Pan J.Q.; Sheng M.; Farsi Z.;
Sci. Rep. 14:2798-2798(2024)
Cited for: CHARACTERIZATION OF VARIANTS 58-GLU--GLU-1461 DEL; LEU-576; LYS-586; ARG-591; MET-605; ILE-653; HIS-671; CYS-698; 700-TYR--VAL-1464 DEL; ARG-707; VAL-727; THR-727; MET-775; ALA-784; ILE-788; MET-794; ARG-809; PRO-811; MET-812; LEU-967; THR-1295 AND 1339-LYS--VAL-1464 DEL;
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.