UniProtKB/SwissProt variant VAR

Variant information

Variant position:

2430

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

Type of variant:

Unclassified

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 Alanine (A) to Valine (V) at position 2430 (A2430V, p.Ala2430Val).

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 small size and hydrophobic (A) to medium size and hydrophobic (V)

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:

Cardiomyopathy, familial hypertrophic 26 (CMH26) [MIM:617047]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:25351925}. 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 CMH26; unknown pathological significance; increased aggregation; localized in perinuclear region of cytoplasm.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs200516164 [ dbSNP | Ensembl ]

Sequence information

Variant position:

2430

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

Protein sequence length:

2725

The length of the canonical sequence.

Location on the sequence:

RLTVTSLQETGLKVNQPASF A VQLNGARGVIDARVHTPSGA

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                         RLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGA

Mouse                         RLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGA

Rat                           RLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGA

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 – 2725	Filamin-C
Repeat	2403 – 2496	Filamin 22
Region	2403 – 2724	Interaction with INPPL1
Beta strand	2427 – 2432

Literature citations

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy.
Valdes-Mas R.; Gutierrez-Fernandez A.; Gomez J.; Coto E.; Astudillo A.; Puente D.A.; Reguero J.R.; Alvarez V.; Moris C.; Leon D.; Martin M.; Puente X.S.; Lopez-Otin C.;
Nat. Commun. 5:5326-5326(2014)
Cited for: INVOLVEMENT IN CMH26; VARIANTS CMH26 ALA-123; LYS-290; THR-1539; HIS-2133; SER-2151 AND VAL-2430; CHARACTERIZATION OF VARIANTS CMH26 ALA-123; THR-1539; HIS-2133 AND VAL-2430; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14315: Variant p.Ala2430Val