Variant position: 210 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 NVFATSALRSLRFLQILRMI RMDRRGGTWKLLGSVVYAHSK
Mouse NVFATSALRSLRFLQILRMI RMDRRGGTWKLLGSVVYAHSK
Rat NVFATSALRSLRFLQILRMI RMDRRGGTWKLLGSVVYAHSK
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
196 – 218 Helical; Voltage-sensor; Name=Segment S4
217 – 217 Phosphothreonine
217 – 217 T -> A. No effect on current or expression.
217 – 217 T -> D. Abolishes currents without reducing channel protein expression.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu S.; Patel J.; Cordeiro D.; Hewson S.; Callen D.; Donner E.J.; Hahn C.D.; Kannu P.; Kobayashi J.; Minassian B.A.; Moharir M.; Siriwardena K.; Weiss S.K.; Weksberg R.; Snead O.C. III;
Cited for: VARIANTS DEE7 CYS-210; PRO-234 AND 578-MET-LEU-579 DELINS ILE-MET;
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