UniProtKB/SwissProt variant VAR

Variant information

Variant position:

112

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 Glutamine (Q) at position 112 (R112Q, p.Arg112Gln).

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 (Q)

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

Involvement in disease:

Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744]: A severe neurologic disorder characterized by onset of seizures in the first months of life and usually associated with EEG abnormalities. Affected infants have convulsive seizures (hemiclonic or generalized) that are often prolonged and triggered by fever. Other seizure types include focal, myoclonic, absence seizures, and drop attacks. Development is normal in the first year of life with later slowing and intellectual disability. {ECO:0000269|PubMed:24623842, ECO:0000269|PubMed:27864847}. 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 EIEE19.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs587777308 [ dbSNP | Ensembl ]

Sequence information

Variant position:

112

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

Protein sequence length:

456

The length of the canonical sequence.

Location on the sequence:

FFRQSWKDERLKFKGPMTVL R LNNLMASKIWTPDTFFHNGK

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                         FFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGK

Mouse                         FFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGK

Rat                           FFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGK

Bovine                        FFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGK

Chicken                       FFRQSWKDERLKFKGPMTVLRLNNLMASKIWTPDTFFHNGK

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	28 – 456	Gamma-aminobutyric acid receptor subunit alpha-1
Topological domain	28 – 251	Extracellular
Beta strand	109 – 113

Literature citations

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill G.L.; Weckhuysen S.; McMahon J.M.; Hartmann C.; Moller R.S.; Hjalgrim H.; Cook J.; Geraghty E.; O'Roak B.J.; Petrou S.; Clarke A.; Gill D.; Sadleir L.G.; Muhle H.; von Spiczak S.; Nikanorova M.; Hodgson B.L.; Gazina E.V.; Suls A.; Shendure J.; Dibbens L.M.; De Jonghe P.; Helbig I.; Berkovic S.F.; Scheffer I.E.; Mefford H.C.;
Neurology 82:1245-1253(2014)
Cited for: INVOLVEMENT IN EIEE19; VARIANTS EIEE19 GLN-112; SER-251 AND THR-306;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14867: Variant p.Arg112Gln