UniProtKB/SwissProt variant VAR

Variant information

Variant position:

209

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 Arginine (R) to Cysteine (C) at position 209 (R209C, p.Arg209Cys).

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 large size and basic (R) to medium size and polar (C)

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

BLOSUM score:

-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:

In DEE17 and NEDIM.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs886039494 [ dbSNP | Ensembl ]

Sequence information

Variant position:

209

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:

HFTFKNLHFRLFDVGGQRSE R KKWIHCFEDVTAIIFCVALS

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                         HFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALS

Mouse                         HFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALS

Rat                           HFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALS

Bovine                        HFTFKNLHFRLFDVGGQRSERKKWIHCFEDVTAIIFCVALS

Xenopus laevis                HFTFKNLHFRLFDVGGQRSERKKWWHCFEDVTAIIFCVALT

Caenorhabditis elegans        HFTFKNLNFKLFDVGGQRSERKKWIHCFEDVTAIIFCVAMS

Drosophila                    HFSFKNLNFKLFDVGGQRSERKKWIHCFEDVTAIIFCVAMS

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
Modified residue	205 – 205	5-glutamyl histamine
Turn	207 – 212

Literature citations

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.
Saitsu H.; Fukai R.; Ben-Zeev B.; Sakai Y.; Mimaki M.; Okamoto N.; Suzuki Y.; Monden Y.; Saito H.; Tziperman B.; Torio M.; Akamine S.; Takahashi N.; Osaka H.; Yamagata T.; Nakamura K.; Tsurusaki Y.; Nakashima M.; Miyake N.; Shiina M.; Ogata K.; Matsumoto N.;
Eur. J. Hum. Genet. 24:129-134(2016)
Cited for: INVOLVEMENT IN NEDIM; VARIANTS NEDIM CYS-209; VAL-227 AND LYS-246; VARIANT DEE17 ARG-203;

Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
Parrini E.; Marini C.; Mei D.; Galuppi A.; Cellini E.; Pucatti D.; Chiti L.; Rutigliano D.; Bianchini C.; Virdo S.; De Vita D.; Bigoni S.; Barba C.; Mari F.; Montomoli M.; Pisano T.; Rosati A.; Guerrini R.;
Hum. Mutat. 38:216-225(2017)
Cited for: VARIANT DEE17 CYS-209;

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.Arg209Cys