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NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) AND Paramyotonia congenita of Von Eulenburg

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 23, 1995
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:
RCV000006272.9

Allele description

NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
HGVS:
  • NC_000017.11:g.63944708C>T
  • NG_011699.1:g.33211G>A
  • NG_042788.1:g.27616C>T
  • NM_000334.4:c.3877G>AMANE SELECT
  • NP_000325.4:p.Val1293Ile
  • NC_000017.10:g.62022068C>T
  • P35499:p.Val1293Ile
Protein change:
V1293I; VAL1293ILE
Links:
UniProtKB: P35499#VAR_001566; OMIM: 603967.0013; dbSNP: rs121908551
NCBI 1000 Genomes Browser:
rs121908551
Molecular consequence:
  • NM_000334.4:c.3877G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paramyotonia congenita of Von Eulenburg
Synonyms:
Paramyotonia congenita; Paralysis periodica paramyotonica; Eulenburg disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008195; MedGen: C0221055; Orphanet: 684; OMIM: 168300

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026454OMIM
no assertion criteria provided
Pathogenic
(Oct 23, 1995) 		germlineliterature only

Koch, M. C., Baumbach, K., George, A. L., Ricker, K. Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (val1293ile). Neuroreport 6: 2001-2004, 1995.

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Summary from all submissions

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

Details of each submission

From OMIM, SCV000026454.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided

Description

In 3 unrelated 3-generation families segregating paramyotonia without cold paralysis (see 168300) as an autosomal dominant trait, Koch et al. (1995) identified a heterozygous c.3877G-A transition in exon 21 of the SCN4A gene, resulting in a val1293-to-ile (V1293I) substitution. The amino acid alteration was not found to be a mild polymorphism in their survey of 200 chromosomes from the German population. The predicted mutation was located at the intracellular phase of segment S6 in domain III of the channel protein. Val1293 is conserved in human, rat, and eel.

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

Last Updated: Jul 15, 2024