Variant position: 213 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 ATSALRSLRFLQILRMIRMD RRGGTWKLLGSVVYAHSKELV
Mouse ATSALRSLRFLQILRMIRMD RRGGTWKLLGSVVYAHSKELV
Rat ATSALRSLRFLQILRMIRMD RRGGTWKLLGSVVYAHSKELV
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.
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.
Grinton B.E.; Heron S.E.; Pelekanos J.T.; Zuberi S.M.; Kivity S.; Afawi Z.; Williams T.C.; Casalaz D.M.; Yendle S.; Linder I.; Lev D.; Lerman-Sagie T.; Malone S.; Bassan H.; Goldberg-Stern H.; Stanley T.; Hayman M.; Calvert S.; Korczyn A.D.; Shevell M.; Scheffer I.E.; Mulley J.C.; Berkovic S.F.;
Cited for: VARIANTS BFNS1 ALA-114; ARG-159; 204-GLN--LYS-872 DEL; GLN-213; GLY-353; PHE-358; 448-ARG--LYS-872 DEL; VAL-578; 581-ARG--LYS-872 DEL; SER-588 AND ARG-637;
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;
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.