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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43526: Variant p.Thr217Ala

Potassium voltage-gated channel subfamily KQT member 2
Gene: KCNQ2
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Variant information Variant position: help 217 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 Threonine (T) to Alanine (A) at position 217 (T217A, p.Thr217Ala). 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 medium size and polar (T) to small size and hydrophobic (A) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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; also in patients with infantile seizures; no effect on channel current or expression. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 217 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 LRSLRFLQILRMIRMDRRGG T WKLLGSVVYAHSKELVTAWY 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                         LRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWY

Mouse                         LRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWY

Rat                           LRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWY
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
Topological domain 216 – 227 Cytoplasmic
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.
Helix 216 – 227



Literature citations
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.
Zara F.; Specchio N.; Striano P.; Robbiano A.; Gennaro E.; Paravidino R.; Vanni N.; Beccaria F.; Capovilla G.; Bianchi A.; Caffi L.; Cardilli V.; Darra F.; Bernardina B.D.; Fusco L.; Gaggero R.; Giordano L.; Guerrini R.; Incorpora G.; Mastrangelo M.; Spaccini L.; Laverda A.M.; Vecchi M.; Vanadia F.; Veggiotti P.; Viri M.; Occhi G.; Budetta M.; Taglialatela M.; Coviello D.A.; Vigevano F.; Minetti C.;
Epilepsia 54:425-436(2013)
Cited for: VARIANTS BFNS1 ASP-154; GLU-159; VAL-196; 448-ARG--LYS-872 DEL AND TRP-547; VARIANT ALA-217;
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.