Sequence information
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:
PGLKVSIRAVCVMRFLVSKR
K FKESLRPYDVMDVIEQYSAG
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 PGLKVSIRAVCVMRFLVSKRK FKESLRPYDVMDVIEQYSAG
Mouse PGLKVSIRAVCVMRFLVSKRK FKESLRPYDVMDVIEQYSAG
Rat PGLKVSIRAVCVMRFLVSKRK FKESLRPYDVMDVIEQYSAG
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 – 872
Potassium voltage-gated channel subfamily KQT member 2
Topological domain
313 – 872
Cytoplasmic
Alternative sequence
394 – 872
Missing. In isoform 6.
Helix
536 – 559
Literature citations
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.;
Neurology 63:57-65(2004)
Cited for: VARIANT BFNS1 ASN-554; VARIANT DEE7 ASN-554; CHARACTERIZATION OF VARIANT BFNS1 ASN-554;
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.