Variant position: 287 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:
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 FSSYADSLWWGTITLTTIGY GDKTPHTWLGRVLAAGFALLG
Mouse FSSYADSLWWGTITLTTIGY GDKTPHTWLGRVLAAGFALLG
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
1 – 695 Potassium voltage-gated channel subfamily KQT member 4
271 – 292 Pore-forming; Name=Segment H5
283 – 288 Selectivity filter
268 – 268 S -> G. No effect on inhibition by potassium channel toxin SsTX.
272 – 272 D -> G. No effect on inhibition by potassium channel toxin SsTX.
288 – 288 D -> G. Resistant to inhibition by potassium channel toxin SsTX. Normal voltage activation.
290 – 290 T -> V. No effect on inhibition by potassium channel toxin SsTX.
292 – 292 H -> G. No effect on inhibition by potassium channel toxin SsTX.
295 – 295 L -> V. No effect on inhibition by potassium channel toxin SsTX.
298 – 298 V -> T. No effect on inhibition by potassium channel toxin SsTX.
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
Arnett J.; Emery S.B.; Kim T.B.; Boerst A.K.; Lee K.; Leal S.M.; Lesperance M.M.;
Arch. Otolaryngol. Head Neck Surg. 137:54-59(2011)
Cited for: VARIANT DFNA2A ARG-287;
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