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:
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 AVLAAGSQGNVFATSALRSL RFLQILRMIRMDRRGGTWKLL
Mouse AVLAAGSQGNVFATSALRSL RFLQILRMIRMDRRGGTWKLL
Rat AVLAAGSQGNVFATSALRSL RFLQILRMIRMDRRGGTWKLL
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.
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 EIEE7 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 EIEE7 CYS-201; GLN-213 AND SER-561; VARIANTS BFNS1 TRP-213 AND 581-ARG--LYS-872 DEL;
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.