Sequence information
Variant position: 247 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:
AHSKELVTAWYIGFLCLILA
S FLVYLAEKGENDHFDTYADA
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 AHSKELVTAWYIGFLCLILAS FLVYLAEKGENDHFDTYADA
Mouse AHSKELVTAWYIGFLCLILAS FLVYLAEKGENDHFDTYADA
Rat AHSKELVTAWYIGFLCLILAS FLVYLAEKGENDHFDTYADA
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
Transmembrane
232 – 252
Helical; Name=Segment S5
Literature citations
Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.
Dedek K.; Fusco L.; Teloy N.; Steinlein O.K.;
Epilepsy Res. 54:21-27(2003)
Cited for: VARIANT DEE7 TRP-247; CHARACTERIZATION OF VARIANT DEE7 TRP-247; FUNCTION;
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.