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:
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 AHSKELVTAWYIGFLCLILA SFLVYLAEKGENDHFDTYADA
Mouse AHSKELVTAWYIGFLCLILA SFLVYLAEKGENDHFDTYADA
Rat AHSKELVTAWYIGFLCLILA SFLVYLAEKGENDHFDTYADA
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
232 – 252 Helical; Name=Segment S5
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 EIEE7 TRP-247; CHARACTERIZATION OF VARIANT EIEE7 TRP-247; FUNCTION;
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