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NM_000217.3(KCNA1):c.731C>A (p.Pro244His) AND Myokymia 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2000
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000014434.26

Allele description [Variation Report for NM_000217.3(KCNA1):c.731C>A (p.Pro244His)]

NM_000217.3(KCNA1):c.731C>A (p.Pro244His)

Gene:
KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_000217.3(KCNA1):c.731C>A (p.Pro244His)
HGVS:
  • NC_000012.12:g.4912109C>A
  • NG_011815.1:g.7203C>A
  • NM_000217.3:c.731C>AMANE SELECT
  • NP_000208.2:p.Pro244His
  • LRG_1297t1:c.731C>A
  • LRG_1297:g.7203C>A
  • LRG_1297p1:p.Pro244His
  • NC_000012.11:g.5021275C>A
  • Q09470:p.Pro244His
Protein change:
P244H; PRO244HIS
Links:
UniProtKB: Q09470#VAR_037103; OMIM: 176260.0011; dbSNP: rs28933382
NCBI 1000 Genomes Browser:
rs28933382
Molecular consequence:
  • NM_000217.3:c.731C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myokymia 1
Identifiers:
MedGen: C2674766

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034683OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2000) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A.

Ann Neurol. 2000 Oct;48(4):647-56.

PubMed [citation]
PMID:
11026449

Details of each submission

From OMIM, SCV000034683.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a boy and his father with isolated myokymia (see 160120) and leg muscle hypertrophy, but without ataxic episodes, Eunson et al. (2000) identified a heterozygous 731C-A point mutation in the KCNA1 gene, resulting in a pro244-to-his substitution (P244H) in the intracellular loop between transmembrane segments 2 and 3. Functional studies of current amplitudes in Xenopus oocytes showed no difference between the mutation compared to wildtype. Although coexpression experiments with wildtype RNA yielded a peak current amplitude that was 200% of wildtype alone, coexpression of the mutant and wildtype genes had only a small effect on current activation parameters, which the authors suggested may be reflected in the relatively simple phenotype of myokymia without ataxia.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 1, 2022