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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13224: Variant p.Val618Gly

Glutamate receptor ionotropic, NMDA 2B
Gene: GRIN2B
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Variant information Variant position: help 618 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 Valine (V) to Glycine (G) at position 618 (V618G, p.Val618Gly). 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 Change from medium size and hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 DEE27; severe phenotype with early onset seizures; gain of function mutation; results in neuronal hyperexcitability; the mutant channel is not inhibited by magnesium and has increased calcium permeability compared to wild-type. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 618 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1484 The length of the canonical sequence.
Location on the sequence: help PSFTIGKAIWLLWGLVFNNS V PVQNPKGTTSKIMVSVWAFF 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                         PSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFF

                              PSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFF

Mouse                         PSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFF

Rat                           PSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFF

Xenopus laevis                PSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFF
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 27 – 1484 Glutamate receptor ionotropic, NMDA 2B
Intramembrane 604 – 623 Discontinuously helical
Region 604 – 623 Pore-forming
Site 615 – 615 Functional determinant of NMDA receptors
Mutagenesis 636 – 636 A -> P. Severely reduced localization to cell membrane.
Mutagenesis 636 – 636 A -> V. Reduced localization to cell membrane. Affects glutamate-gated calcium ion channel activity resulting in increased agonist potency and mutant channels activated at lower glutamate and glycine concentrations.



Literature citations
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Lemke J.R.; Hendrickx R.; Geider K.; Laube B.; Schwake M.; Harvey R.J.; James V.M.; Pepler A.; Steiner I.; Hortnagel K.; Neidhardt J.; Ruf S.; Wolff M.; Bartholdi D.; Caraballo R.; Platzer K.; Suls A.; De Jonghe P.; Biskup S.; Weckhuysen S.;
Ann. Neurol. 75:147-154(2014)
Cited for: INVOLVEMENT IN DEE27; VARIANTS DEE27 HIS-540; ILE-615 AND GLY-618; CHARACTERIZATION OF VARIANTS DEE27 HIS-540; ILE-615 AND GLY-618;
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.