Variant position: 284 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 YADALWWGLITLTTIGYGDK YPQTWNGRLLAATFTLIGVSF
Mouse YADALWWGLITLTTIGYGDK YPQTWNGRLLAATFTLIGVSF
Rat YADALWWGLITLTTIGYGDK YPQTWNGRLLAATFTLIGVSF
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
265 – 285 Pore-forming; Name=Segment H5
279 – 279 G -> S. More than 50% reduction of wt heteromeric current. Ratio of 1:1 and 1:1:2.
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.
Singh N.A.; Charlier C.; Stauffer D.; DuPont B.R.; Leach R.J.; Melis R.; Ronen G.M.; Bjerre I.; Quattlebaum T.; Murphy J.V.; McHarg M.L.; Gagnon D.; Rosales T.O.; Peiffer A.; Anderson V.E.; Leppert M.;
Nat. Genet. 18:25-29(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS BFNS1 CYS-284 AND THR-306;
Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.
Schroeder B.C.; Kubisch C.; Stein V.; Jentsch T.J.;
Cited for: MUTAGENESIS OF SER-52 AND GLY-279; PHOSPHORYLATION AT SER-52; CHARACTERIZATION OF VARIANTS CYS-284 AND THR-306;
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.
Singh N.A.; Westenskow P.; Charlier C.; Pappas C.; Leslie J.; Dillon J.; Anderson V.E.; Sanguinetti M.C.; Leppert M.F.;
Cited for: VARIANTS BFNS1 VAL-208; GLN-228; PHE-243; CYS-284; THR-306 AND GLN-333; CHARACTERIZATION OF VARIANTS BFNS1 VAL-208 AND GLN-333; FUNCTION;
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