UniProtKB/SwissProt variant VAR

Variant information

Variant position:

85

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 Histidine (H) at position 85 (R85H, p.Arg85His).

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 (H)

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

BLOSUM score:

0

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:

Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377]: A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. {ECO:0000269|PubMed:19808477}. 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 ATFB13; the mutant results in highly reduced sodium currents and altered channel gating when coexpressed with SCN5A in a heterologous expression system.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs16969925 [ dbSNP | Ensembl ]

Sequence information

Variant position:

85

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:

EEFVKILRYENEVLQLEEDE R FEGRVVWNGSRGTKDLQDLS

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                         EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

                              EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

Chimpanzee                    EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

Mouse                         EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

Rat                           EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

Bovine                        EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

Rabbit                        EEFVKILRYENEVLQLEEDERFEGRVVWNGSRGTKDLQDLS

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
Glycosylation	93 – 93	N-linked (GlcNAc...) asparagine
Disulfide bond	40 – 121
Beta strand	83 – 85

Literature citations

Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.
Watanabe H.; Darbar D.; Kaiser D.W.; Jiramongkolchai K.; Chopra S.; Donahue B.S.; Kannankeril P.J.; Roden D.M.;
Circ. Arrhythm. Electrophysiol. 2:268-275(2009)
Cited for: VARIANTS ATFB13 HIS-85 AND ASN-153; CHARACTERIZATION OF VARIANTS ATFB13 HIS-85 AND ASN-153;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q07699: Variant p.Arg85His