NM_005592.3(MUSK):c.2180C>T (p.Ala727Val) AND Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency

Clinical significance:Pathogenic (Last evaluated: Jun 15, 2010)

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:
RCV000054418.3

Allele description [Variation Report for NM_005592.3(MUSK):c.2180C>T (p.Ala727Val)]

NM_005592.3(MUSK):c.2180C>T (p.Ala727Val)

Gene:
MUSK:muscle associated receptor tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q31.3
Genomic location:
Preferred name:
NM_005592.3(MUSK):c.2180C>T (p.Ala727Val)
HGVS:
  • NC_000009.12:g.110800558C>T
  • NG_016016.1:g.136788C>T
  • NM_005592.3:c.2180C>T
  • NP_005583.1:p.Ala727Val
  • NC_000009.11:g.113562838C>T
  • O15146:p.Ala727Val
Protein change:
A727V; ALA727VAL
Links:
UniProtKB: O15146#VAR_066605; OMIM: 601296.0005; dbSNP: 397515450
NCBI 1000 Genomes Browser:
rs397515450
Molecular consequence:
  • NM_005592.3:c.2180C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9)
Identifiers:
MedGen: CN229753; Orphanet: 590; OMIM: 616325
Age of onset:
Infancy
Prevalence:
1-9 / 1 000 000 590

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082895OMIMno assertion criteria providedPathogenic
(Jun 15, 2010)
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

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.

Maselli RA, Arredondo J, Cagney O, Ng JJ, Anderson JA, Williams C, Gerke BJ, Soliven B, Wollmann RL.

Hum Mol Genet. 2010 Jun 15;19(12):2370-9. doi: 10.1093/hmg/ddq110.

PubMed [citation]
PMID:
20371544
PMCID:
PMC2876883

Details of each submission

From OMIM, SCV000082895.2

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

Description

For discussion of the ala727-to-val (A727V) mutation in the MUSK gene that was found in compound heterozygous state in a patient with congenital myasthenic syndrome-9 (CMS9; 616325) associated with AChR deficiency by Maselli et al. (2010), see 601296.0004.

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

Last Updated: Dec 6, 2016