UniProtKB/SwissProt variant VAR

Variant information

Variant position:

92

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Tryptophan (W) at position 92 (R92W, p.Arg92Trp).

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 large size and aromatic (W)

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

Involvement in disease:

GLUT1 deficiency syndrome 2 (GLUT1DS2) [MIM:612126]: A clinically variable disorder characterized primarily by onset in childhood of paroxysmal exercise-induced dyskinesia. The dyskinesia involves transient abnormal involuntary movements, such as dystonia and choreoathetosis, induced by exercise or exertion, and affecting the exercised limbs. Some patients may also have epilepsy, most commonly childhood absence epilepsy. Mild mental retardation may also occur. In some patients involuntary exertion-induced dystonic, choreoathetotic, and ballistic movements may be associated with macrocytic hemolytic anemia. {ECO:0000269|PubMed:14605501, ECO:0000269|PubMed:18451999, ECO:0000269|PubMed:19630075, ECO:0000269|PubMed:19798636, ECO:0000269|PubMed:20129935, ECO:0000269|PubMed:20574033, ECO:0000269|PubMed:20621801, ECO:0000269|PubMed:20830593, ECO:0000269|PubMed:21204808}. Note=The disease is caused by mutations affecting the gene represented in this entry.

The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:

In GLUT1DS2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs202060209 [ dbSNP | Ensembl ]

Sequence information

Variant position:

92

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

Protein sequence length:

492

The length of the canonical sequence.

Location on the sequence:

FSVGGMIGSFSVGLFVNRFG R RNSMLMMNLLAFVSAVLMGF

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                         FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGF

Mouse                         FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVAAVLMGF

Rat                           FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGF

Pig                           FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFISAVLMGF

Bovine                        FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGF

Rabbit                        FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGF

Sheep                         FSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGF

Chicken                       FSVGGMIGSFSVGLFVNRFGRRNSMLMSNILAFLAAVLMGF

Drosophila                    FAIGGMLGGFSGGWMANRFGRKGGLLLNNVLGIAGACLMGF

Baker's yeast                 -----LMGRSGSGKSSMR-----SIIFSNYSAFDTRRLGAT

Fission yeast                 -----LMGRSGSGKSSMR-----SIVFSNYVAKDTRRLGAT

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	1 – 492	Solute carrier family 2, facilitated glucose transporter member 1
Transmembrane	91 – 112	Helical; Name=3
Helix	92 – 98

Literature citations

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias.
Schneider S.A.; Paisan-Ruiz C.; Garcia-Gorostiaga I.; Quinn N.P.; Weber Y.G.; Lerche H.; Hardy J.; Bhatia K.P.;
Mov. Disord. 24:1684-1688(2009)
Cited for: VARIANTS GLUT1DS2 TRP-92 AND GLN-333;

UniProtKB/Swiss-Prot P11166: Variant p.Arg92Trp