Sequence information
Variant position: 201 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:
AVLAAGSQGNVFATSALRSL
R FLQILRMIRMDRRGGTWKLL
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 AVLAAGSQGNVFATSALRSLR FLQILRMIRMDRRGGTWKLL
Mouse AVLAAGSQGNVFATSALRSLR FLQILRMIRMDRRGGTWKLL
Rat AVLAAGSQGNVFATSALRSLR FLQILRMIRMDRRGGTWKLL
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
196 – 218
Helical; Voltage-sensor; Name=Segment S4
Modified residue
217 – 217
Phosphothreonine
Mutagenesis
217 – 217
T -> A. No effect on current or expression.
Mutagenesis
217 – 217
T -> D. Abolishes currents without reducing channel protein expression.
Literature citations
Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
Miceli F.; Soldovieri M.V.; Ambrosino P.; De Maria M.; Migliore M.; Migliore R.; Taglialatela M.;
J. Neurosci. 35:3782-3793(2015)
Cited for: CHARACTERIZATION OF VARIANT DEE7 CYS-201; FUNCTION;
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
Trump N.; McTague A.; Brittain H.; Papandreou A.; Meyer E.; Ngoh A.; Palmer R.; Morrogh D.; Boustred C.; Hurst J.A.; Jenkins L.; Kurian M.A.; Scott R.H.;
J. Med. Genet. 53:310-317(2016)
Cited for: VARIANTS DEE7 CYS-201; GLN-213 AND SER-561; VARIANTS BFNS1 TRP-213 AND 581-ARG--LYS-872 DEL;
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.