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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q09470: Variant p.Ala242Pro

Potassium voltage-gated channel subfamily A member 1
Gene: KCNA1
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Variant information Variant position: help 242 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 Alanine (A) to Proline (P) at position 242 (A242P, p.Ala242Pro). 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 small size and hydrophobic (A) to medium size and hydrophobic (P) 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 MK1; 10% reduction of mean peak current amplitudes compared to wil-dtype; mutant and wild-type expression together is consistent with a loss-of-function effect of the mutation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 242 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 495 The length of the canonical sequence.
Location on the sequence: help FIVETLCIIWFSFELVVRFF A CPSKTDFFKNIMNFIDIVAI 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                         FIVETLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAI

Mouse                         FIVETLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAI

Rat                           FIVETLCIIWFSFELVVRFFACPSKTDFFKNIMNFIDIVAI
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 – 495 Potassium voltage-gated channel subfamily A member 1
Transmembrane 221 – 242 Helical; Name=Segment S2
Lipidation 243 – 243 S-palmitoyl cysteine
Mutagenesis 243 – 243 C -> A. Strongly decreases palmitoylation and alters current kinetics.
Mutagenesis 255 – 255 N -> AHT. Slightly increases channel activity, but does not affect expression at the cell membrane.
Mutagenesis 255 – 255 N -> E. Abolishes channel activity, but does not affect expression at the cell membrane.
Mutagenesis 255 – 255 N -> Q. Strongly reduces channel activity, but does not affect expression at the cell membrane.
Mutagenesis 255 – 255 N -> V. No effect on channel activity.



Literature citations
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Eunson L.H.; Rea R.; Zuberi S.M.; Youroukos S.; Panayiotopoulos C.P.; Liguori R.; Avoni P.; McWilliam R.C.; Stephenson J.B.P.; Hanna M.G.; Kullmann D.M.; Spauschus A.;
Ann. Neurol. 48:647-656(2000)
Cited for: VARIANTS MK1 PRO-242 AND HIS-244; VARIANT EA1 ILE-404; CHARACTERIZATION OF VARIANTS MK1 PRO-242 AND HIS-244; CHARACTERIZATION OF VARIANT EA1 ILE-404; FUNCTION;
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.