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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43526: Variant p.Arg213Gln

Potassium voltage-gated channel subfamily KQT member 2
Gene: KCNQ2
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Variant information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Glutamine (Q) at position 213 (R213Q, p.Arg213Gln). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In BFNS1 and DEE7. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 213 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 872 The length of the canonical sequence.
Location on the sequence: help ATSALRSLRFLQILRMIRMD R RGGTWKLLGSVVYAHSKELV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         ATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELV

Mouse                         ATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELV

Rat                           ATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 872 Potassium voltage-gated channel subfamily KQT member 2
Transmembrane 197 – 215 Helical; Voltage-sensor; Name=Segment S4
Binding site 214 – 214
Binding site 230 – 230
Modified residue 217 – 217 Phosphothreonine
Mutagenesis 214 – 214 R -> A. No change in voltage activation of KNCQ2 channel.
Mutagenesis 217 – 217 T -> D. Abolishes currents without reducing channel protein expression.
Mutagenesis 230 – 230 K -> L. Reduced sensitivity to PIP2 and voltage sensitivity of KCNQ2 channel.



Literature citations
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.;
Epilepsia 56:1071-1080(2015)
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;
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.