Variant position: 455 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 GIKDRIRMGSSQRRTGPSKQ HLAPPTMPTSPSSEQVGEATS
Mouse GIKDRIRISSSQKRTGPSKQ HLAPPPIPTSPSSEQVGEASS
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
318 – 695 Cytoplasmic
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness.
Kubisch C.; Schroeder B.C.; Friedrich T.; Luetjohann B.; El-Amraoui A.; Marlin S.; Petit C.; Jentsch T.J.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); VARIANT DFNA2A SER-285; VARIANT GLN-455; CHARACTERIZATION OF VARIANT DFNA2A SER-285;
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