NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His) AND Hypokalemic periodic paralysis 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 28, 2009
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:: RCV000019190.28

Allele description

NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His)

Gene:

CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q32.1

Genomic location:

Preferred name:

NM_000069.2(CACNA1S):c.3716G>A (p.Arg1239His)

HGVS:

NC_000001.11:g.201053538C>T
NG_009816.1:g.64029G>A
NM_000069.2:c.3716G>A
NP_000060.2:p.Arg1239His
NC_000001.10:g.201022666C>T
Q13698:p.Arg1239His

Protein change:

R1239H; ARG1239HIS

Links:

UniProtKB: Q13698#VAR_001502; OMIM: 114208.0001; dbSNP: rs28930068

NCBI 1000 Genomes Browser:

rs28930068

Molecular consequence:

NM_000069.2:c.3716G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hypokalemic periodic paralysis 1 (HOKPP1)
Synonyms:: Hyperkalemic Periodic Paralysis Type 1
Identifiers:: MedGen: C3714580; Orphanet: 681; OMIM: 170400
Age of onset:: Childhood
Prevalence:: 1-9 / 100 000 681

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000039478	OMIM	no assertion criteria provided	Pathogenic (Feb 1, 1995)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 8004673, 3037387, 7847370
SCV000040412	GeneReviews	no assertion criteria provided	pathologic (Apr 28, 2009)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000039478

OMIM

no assertion criteria provided

Pathogenic
(Feb 1, 1995)

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV000040412

GeneReviews

no assertion criteria provided

pathologic
(Apr 28, 2009)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.

Ptácek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwieciński H, McManis PG, Santiago L, Moore M, Fouad G, et al.

Cell. 1994 Jun 17;77(6):863-8.

PubMed [citation]

PMID:: 8004673

Primary structure of the receptor for calcium channel blockers from skeletal muscle.

Tanabe T, Takeshima H, Mikami A, Flockerzi V, Takahashi H, Kangawa K, Kojima M, Matsuo H, Hirose T, Numa S.

Nature. 1987 Jul 23-29;328(6128):313-8.

PubMed [citation]

PMID:: 3037387

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039478.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In patients with hypokalemic periodic paralysis (HOKPP1; 170400), Ptacek et al. (1994) demonstrated a G-to-A transition at a position analogous to basepair 3716 in rabbit cDNA (Tanabe et al., 1987). The change from CGT to CAT predicted substitution of an arginine residue by a histidine at a position corresponding to amino acid 1239 in the rabbit DHP receptor. This arginine is completely conserved among genes encoding DHP receptors from rabbit, carp, ray, and human skeletal muscle. Elbaz et al. (1995) demonstrated a de novo arg1239-to-his mutation.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From GeneReviews, SCV000040412.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2016

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