UniProtKB/Swiss-Prot Q12879: Variant p.Val452Met

Glutamate receptor ionotropic, NMDA 2A
Gene: GRIN2A
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Variant information Variant position:

452 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Valine (V) to Methionine (M) at position 452 (V452M, p.Val452Met). 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:

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:

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:

No effect on localization to the cell membrane; changed glutamate-gated calcium ion channel activity characterized by increased glutamate potency. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs145956175 [ dbSNP | Ensembl ]

Sequence information Variant position:

452 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1464 The length of the canonical sequence.
Location on the sequence:

NTVPCRKFVKINNSTNEGMN V KKCCKGFCIDILKKLSRTVK 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                         NTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVK

Chimpanzee                    NTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVK

Mouse                         NTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVK

Rat                           NTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVK

Xenopus laevis                NTVPCRKYFRLNNSTTEGTSVKKCCKGFCIDILKKLSKTVK

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	23 – 1464	Glutamate receptor ionotropic, NMDA 2A
Topological domain	23 – 556	Extracellular
Glycosylation	443 – 443	N-linked (GlcNAc...) asparagine
Glycosylation	444 – 444	N-linked (GlcNAc...) asparagine
Disulfide bond	429 – 455
Disulfide bond	436 – 456
Beta strand	449 – 458

Literature citations
Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.
Tarabeux J.; Kebir O.; Gauthier J.; Hamdan F.F.; Xiong L.; Piton A.; Spiegelman D.; Henrion E.; Millet B.; Fathalli F.; Joober R.; Rapoport J.L.; DeLisi L.E.; Fombonne E.; Mottron L.; Forget-Dubois N.; Boivin M.; Michaud J.L.; Drapeau P.; Lafreniere R.G.; Rouleau G.A.; Krebs M.O.;
Transl. Psychiatry 1:E55-E55(2011)
Cited for: VARIANTS ILE-143; ASN-189; SER-336; MET-452; SER-576; MET-852; VAL-922; ASN-937; THR-968; MET-998; ALA-1064; SER-1229 AND GLY-1276; Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains.
Swanger S.A.; Chen W.; Wells G.; Burger P.B.; Tankovic A.; Bhattacharya S.; Strong K.L.; Hu C.; Kusumoto H.; Zhang J.; Adams D.R.; Millichap J.J.; Petrovski S.; Traynelis S.F.; Yuan H.;
Am. J. Hum. Genet. 99:1261-1280(2016)
Cited for: VARIANTS FESD ALA-506 AND GLY-685; CHARACTERIZATION OF VARIANT FESD ARG-436; ARG-483; TRP-504; ALA-506; HIS-518; MET-531; ASN-669; GLY-685; THR-694; SER-699; VAL-705; LYS-714; THR-716; THR-727; ASN-731; LEU-734; GLU-772; CHARACTERIZATION OF VARIANT MET-452; SUBCELLULAR LOCATION;

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.