UniProtKB/SwissProt variant VAR

Variant information

Variant position:

40

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

From Glycine (G) to Arginine (R) at position 40 (G40R, p.Gly40Arg).

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 glycine (G) to large size and basic (R)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-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:

In DEE17 and NEDIM.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886041715 [ dbSNP | Ensembl ]

Sequence information

Variant position:

40

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

354

The length of the canonical sequence.

Location on the sequence:

EKNLKEDGISAAKDVKLLLL G AGESGKSTIVKQMKIIHEDG

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                         EKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG

Mouse                         EKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG

Rat                           EKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG

Bovine                        EKNLKEDGISAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG

Xenopus laevis                EKNLKEDGVTAAKDVKLLLLGAGESGKSTIVKQMKIIHEDG

Caenorhabditis elegans        EKNLKEDGMQAAKDIKLLLLGAGESGKSTIVKQMKIIHESG

Drosophila                    ERNLKEDGIQAAKDIKLLLLGAGESGKSTIVKQMKIIHESG

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	2 – 354	Guanine nucleotide-binding protein G(o) subunit alpha
Domain	32 – 354	G-alpha
Nucleotide binding	40 – 47	GTP
Region	35 – 48	G1 motif
Metal binding	47 – 47	Magnesium

Literature citations

Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy.
Law C.Y.; Chang S.T.; Cho S.Y.; Yau E.K.; Ng G.S.; Fong N.C.; Lam C.W.;
Clin. Chim. Acta 451:292-296(2015)
Cited for: VARIANT DEE17 ARG-40;

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Danti F.R.; Galosi S.; Romani M.; Montomoli M.; Carss K.J.; Raymond F.L.; Parrini E.; Bianchini C.; McShane T.; Dale R.C.; Mohammad S.S.; Shah U.; Mahant N.; Ng J.; McTague A.; Samanta R.; Vadlamani G.; Valente E.M.; Leuzzi V.; Kurian M.A.; Guerrini R.;
Neurol. Genet. 3:E143-E143(2017)
Cited for: VARIANTS NEDIM ARG-40; GLY-47; THR-56; CYS-209 AND GLY-246;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09471: Variant p.Gly40Arg