UniProtKB/SwissProt variant VAR

Potassium voltage-gated channel subfamily KQT member 4
Gene: KCNQ4
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Variant information Variant position:

276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Tryptophan (W) to Serine (S) at position 276 (W276S, p.Trp276Ser). 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 aromatic (W) to small size and polar (S) 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
Variant description:

In DFNA2A. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs80358277 [ dbSNP | Ensembl ]

Sequence information Variant position:

276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

695 The length of the canonical sequence.
Location on the sequence:

VYLAEKDANSDFSSYADSLW W GTITLTTIGYGDKTPHTWLG 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                         VYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLG

Mouse                         VYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLG

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 – 695	Potassium voltage-gated channel subfamily KQT member 4
Intramembrane	271 – 292	Pore-forming; Name=Segment H5
Mutagenesis	261 – 261	K -> G. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	262 – 262	D -> G. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	266 – 266	D -> G. Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation.
Mutagenesis	268 – 268	S -> G. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	272 – 272	D -> G. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	288 – 288	D -> G. Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation.
Mutagenesis	290 – 290	T -> V. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	292 – 292	H -> G. No effect on inhibition by potassium channel toxin SsTX.
Mutagenesis	295 – 295	L -> V. No effect on inhibition by potassium channel toxin SsTX.
Helix	270 – 281

Literature citations
Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
Coucke P.J.; Van Hauwe P.; Kelley P.M.; Kunst H.; Schatteman I.; Van Velzen D.; Meyers J.; Ensink R.J.; Verstreken M.; Declau F.; Marres H.; Kastury K.; Bhasin S.; McGuirt W.T.; Smith R.J.H.; Cremers C.W.R.J.; Van de Heyning P.; Willems P.J.; Smith S.D.; Van Camp G.;
Hum. Mol. Genet. 8:1321-1328(1999)
Cited for: VARIANTS DFNA2A SER-276; CYS-285 AND SER-321;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P56696: Variant p.Trp276Ser