NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) AND Paroxysmal extreme pain disorder

Clinical significance:Pathogenic (Last evaluated: Dec 7, 2006)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006729.3

Allele description [Variation Report for NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)]

NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)

Genes:
SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp)
HGVS:
  • NC_000002.12:g.166228971A>T
  • NG_012798.1:g.152017T>A
  • NM_001365536.1:c.3926T>AMANE SELECT
  • NM_002977.3:c.3893T>A
  • NP_001352465.1:p.Val1309Asp
  • NP_002968.1:p.Val1298Asp
  • LRG_369t1:c.3893T>A
  • LRG_369:g.152017T>A
  • LRG_369p1:p.Val1298Asp
  • NC_000002.11:g.167085481A>T
Protein change:
V1298D; VAL1298ASP
Links:
OMIM: 603415.0009; dbSNP: rs121908911
NCBI 1000 Genomes Browser:
rs121908911
Molecular consequence:
  • NM_001365536.1:c.3926T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.3893T>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Paroxysmal extreme pain disorder (PEXPD)
Synonyms:
PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING; RECTAL PAIN, FAMILIAL
Identifiers:
MONDO: MONDO:0008179; MedGen: C1833661; Orphanet: 46348; OMIM: 167400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026920OMIMno assertion criteria providedPathogenic
(Dec 7, 2006)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

SCN9A mutations in paroxysmal extreme pain disorder: allelic variants underlie distinct channel defects and phenotypes.

Fertleman CR, Baker MD, Parker KA, Moffatt S, Elmslie FV, Abrahamsen B, Ostman J, Klugbauer N, Wood JN, Gardiner RM, Rees M.

Neuron. 2006 Dec 7;52(5):767-74.

PubMed [citation]
PMID:
17145499

Details of each submission

From OMIM, SCV000026920.2

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

Description

In an individual with paroxysmal extreme pain disorder (167400) who inherited an R996C (603415.0008) mutation from his affected father, Fertleman et al. (2006) found a de novo T-to-A transversion in exon 21 of the SCN9A gene, which resulted in a valine-to-aspartic acid substitution at codon 1298 (V1298D), as well. The valine at position 1298 is completely conserved through evolution and among paralogous human voltage-gated sodium channels, and is critical to inactivation of the sodium channel.

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

Last Updated: Oct 7, 2021

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