UniProtKB/SwissProt variant VAR

Variant information

Variant position:

25

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 Aspartate (D) to Asparagine (N) at position 25 (D25N, p.Asp25Asn).

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 acidic (D) to medium size and polar (N)

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

Variant description:

Probable disease-associated variant found in a patient with idiopathic childhood epilepsy; de novo mutation; loss of function in increasing sodium channel activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs786205837 [ dbSNP | Ensembl ]

Sequence information

Variant position:

25

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

Protein sequence length:

218

The length of the canonical sequence.

Location on the sequence:

LALVVGAALVSSACGGCVEV D SETEAVYGMTFKILCISCKR

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                         LALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKR

                              LALVVGAALVSSAWGGCVEVDSETEAVYGMTFKILCISCKR

Chimpanzee                    LALVVGAALVSSACGGCVEVDSETEAVYGMTFKILCISCKR

Mouse                         LALVVGAALVSSAWGGCVEVDSDTEAVYGMTFKILCISCKR

Rat                           LALVVGAVLVSSAWGGCVEVDSETEAVYGMTFKILCISCKR

Bovine                        LAFVVGAALVSSAWGGCVEVDSETEAVYGMTFKILCISCKR

Rabbit                        LAFVVGAALVSSAWGGCVEVDSETEAVYGMTFKILCISCKR

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	19 – 218	Sodium channel subunit beta-1
Topological domain	19 – 160	Extracellular
Domain	22 – 150	Ig-like C2-type
Disulfide bond	21 – 43

Literature citations

A mutation of SCN1B associated with GEFS+ causes functional and maturation defects of the voltage-dependent sodium channel.
Baroni D.; Picco C.; Moran O.;
Hum. Mutat. 39:1402-1415(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT ASN-25;

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.
Orrico A.; Galli L.; Grosso S.; Buoni S.; Pianigiani R.; Balestri P.; Sorrentino V.;
Clin. Genet. 75:579-581(2009)
Cited for: VARIANTS ASN-25; ILE-138; ILE-208; TYR-211 AND ASP-213;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q07699: Variant p.Asp25Asn