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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16389: Variant p.Glu236Lys

Potassium voltage-gated channel subfamily A member 2
Gene: KCNA2
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Variant information Variant position: help 236 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 Glutamate (E) to Lysine (K) at position 236 (E236K, p.Glu236Lys). 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 acidic (E) to large size and basic (K) 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 DEE32; affects channel activity; mutant channels display voltage-dependent activation significantly shifted toward negative potentials compared to wild-type; no effect on channel sensitivity to 4-aminopyridine. Any additional useful information about the variant.


Sequence information Variant position: help 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 499 The length of the canonical sequence.
Location on the sequence: help TSFTDPFFIVETLCIIWFSF E FLVRFFACPSKAGFFTNIMN 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                         TSFTDPFFIVETLCIIWFSFEFLVRFFACPSKAGFFTNIMN

                              TSFTDPFFIVETLCIIWFSFEFLVRFFACPSKAGFFTNIMN

Mouse                         TSFTDPFFIVETLCIIWFSFEFLVRFFACPSKAGFFTNIMN

Rat                           TSFTDPFFIVETLCIIWFSFEFLVRFFACPSKAGFFTNIMN

Rabbit                        TSFTDPFFIVETLCIIWFSFEFLVRFFACPSKAGFFTNIMN

Xenopus laevis                NTFTDPFFIVETLCIIWFSFEFLVRFLACPSKAVFFTNLMN
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 – 499 Potassium voltage-gated channel subfamily A member 2
Transmembrane 222 – 243 Helical; Name=Segment S2
Site 252 – 252 Important for normal, slow channel gating
Lipidation 244 – 244 S-palmitoyl cysteine



Literature citations
A novel KCNA2 variant in a patient with non-progressive congenital ataxia and epilepsy: functional characterization and sensitivity to 4-aminopyridine.
Imbrici P.; Conte E.; Blunck R.; Stregapede F.; Liantonio A.; Tosi M.; D'Adamo M.C.; De Luca A.; Brankovic V.; Zanni G.;
Int. J. Mol. Sci. 22:0-0(2021)
Cited for: VARIANT DEE32 LYS-236; CHARACTERIZATION OF VARIANT DEE32 LYS-236;
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.