Variant position: 310 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 DAQGEEMKEEFETYADALWW GLITLATIGYGDKTPKTWEGR
Mouse DAQGEEMKEEFETYADALWW GLITLATIGYGDKTPKTWEGR
Rat DAQGEEMKEEFETYADALWW GLITLATIGYGDKTPKTWEGR
Bovine DAQGEEMKEEFETYADALWW GLITLATIGYGDKTPKTWEGR
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 3
304 – 324 Pore-forming; Name=Segment H5
318 – 318 G -> S. >50% Reduction of wt heteromeric current; ratio of 1:1 and 1:1:2.
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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; CHARACTERIZATION OF VARIANT BFNS2 VAL-310; MUTAGENESIS OF GLY-318; FUNCTION;
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.
Charlier C.; Singh N.A.; Ryan S.G.; Lewis T.B.; Reus B.E.; Leach R.J.; Leppert M.;
Nat. Genet. 18:53-55(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 48-872 (ISOFORM 1); VARIANT BFNS2 VAL-310;
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 BFNS2 GLY-305 AND VAL-310; CHARACTERIZATION OF VARIANT BFNS2 GLY-305; VARIANT SER-468; CHARACTERIZATION OF VARIANT SER-468; FUNCTION;
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.