UniProtKB/Swiss-Prot O43424: Variant p.Thr68Met

Glutamate receptor ionotropic, delta-2
Gene: GRID2
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Variant information Variant position:

68 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 Threonine (T) to Methionine (M) at position 68 (T68M, p.Thr68Met). 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:

Change from medium size and polar (T) to medium size and hydrophobic (M) 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
Other resources:

Links to websites of interest for the variant.

Variant rs34144324 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1007 The length of the canonical sequence.
Location on the sequence:

VGDLNQNEEILQTEKITFSV T FVDGNNPFQAVQEACELMNQ 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                         VGDLNQNEEILQTEKITFSVTFVDGNNPFQAVQEACELMNQ

Mouse                         VGDLNQNEEILQTEKITFSVTFVDGNNPFQAVQEACELMNQ

Rat                           VGDLNQNEEILQTEKITFSVTFVDGNNPFQAVQEACELMNQ

Zebrafish                     VADLNLNNEILETEKITVSVEFVDGNNPFQAVQEACELMNR

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	24 – 1007	Glutamate receptor ionotropic, delta-2
Topological domain	24 – 566	Extracellular
Region	24 – 345	Interaction with CBLN1 homotrimer
Site	76 – 76	Essential for dimerization
Mutagenesis	60 – 60	T -> A. No effect on CBLN1 interaction; when associated with D76.
Mutagenesis	61 – 61	E -> A. Reduces binding to CBLN1; when associated with D76. Abolishes CBLN1 binding; when associated with A-24; A-26; D-76 and A-345. Abolishes synapse assembly; when associated with A-24; A-26 and A-345. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation; when associated with A-24; A-26 and A-345. Abolishes D-Serine-dependent long term synaptic depression at PF-PC synapses; when associated with A-24; A-26 and A-345.
Mutagenesis	76 – 76	F -> D. Monomeric form. Does not dimerize. Weakly interacts with C1q domain of CBLN1. Forms intermediate synapse. Abolishes cerebellar parallel fiber-Purkinje cell synapse formation. Abolishes D-Serine?dependent long term synaptic depression at PF-PC synapses. Does not recover motor coordination in experiment of transfection in Grid2-null mice.
Beta strand	63 – 70

Literature citations
Submission
Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.; Ohara O.; Nagase T.; Kikuno R.F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT MET-68;

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