Variant position: 285 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 SDFSSYADSLWWGTITLTTI GYGDKTPHTWLGRVLAAGFAL
Mouse SDFSSYADSLWWGTITLTTI GYGDKTPHTWLGRVLAAGFAL
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
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;
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.