Variant position: 554 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 872 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 PGLKVSIRAVCVMRFLVSKR KFKESLRPYDVMDVIEQYSAG
Mouse PGLKVSIRAVCVMRFLVSKR KFKESLRPYDVMDVIEQYSAG
Rat PGLKVSIRAVCVMRFLVSKR KFKESLRPYDVMDVIEQYSAG
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 – 872 Potassium voltage-gated channel subfamily KQT member 2
313 – 872 Cytoplasmic
394 – 872 Missing. In isoform 6.
536 – 559
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.
Borgatti R.; Zucca C.; Cavallini A.; Ferrario M.; Panzeri C.; Castaldo P.; Soldovieri M.V.; Baschirotto C.; Bresolin N.; Dalla Bernardina B.; Taglialatela M.; Bassi M.T.;
Cited for: VARIANT BFNS1 ASN-554; VARIANT DEE7 ASN-554; CHARACTERIZATION OF VARIANT BFNS1 ASN-554;
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