NM_015697.7(COQ2):c.382A>G (p.Met128Val) AND Shy-Drager syndrome

Clinical significance:risk factor (Last evaluated: Jul 3, 2014)

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:
RCV000054428.5

Allele description [Variation Report for NM_015697.7(COQ2):c.382A>G (p.Met128Val)]

NM_015697.7(COQ2):c.382A>G (p.Met128Val)

Gene:
COQ2:coenzyme Q2, polyprenyltransferase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q21.23
Genomic location:
Preferred name:
NM_015697.7(COQ2):c.382A>G (p.Met128Val)
HGVS:
  • NC_000004.12:g.83284533T>C
  • NG_015825.1:g.5382A>G
  • NM_015697.7:c.382A>G
  • NP_056512.5:p.Met128Val
  • NC_000004.11:g.84205686T>C
Protein change:
M128V; MET128VAL
Links:
OMIM: 609825.0006; dbSNP: 778094136
NCBI 1000 Genomes Browser:
rs778094136
Molecular consequence:
  • NM_015697.7:c.382A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Shy-Drager syndrome (MSA)
Synonyms:
MSA1, SUSCEPTIBILITY TO
Identifiers:
MedGen: C0037019; Orphanet: 102; OMIM: 146500
Age of onset:
Adult
Prevalence:
1-9 / 100 000 102

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082905OMIMno assertion criteria providedrisk factor
(Jul 3, 2014)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

The Multiple-System Atrophy Research Collaboration Mutations in COQ2 in familial and sporadic multiple-system atrophy. New Eng. J. Med. 369: 233-244, 2013. Note: Erratum: New Eng. J. Med. 371: 94 only, 2014.

Summary from all submissions

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

Citations

PubMed

Mutant COQ2 in multiple-system atrophy.

Jeon BS, Farrer MJ, Bortnick SF; Korean Canadian Alliance on Parkinson’s Disease and Related Disorders.

N Engl J Med. 2014 Jul 3;371(1):80. doi: 10.1056/NEJMc1311763#SA1. No abstract available.

PubMed [citation]
PMID:
24988567

Multiplex families with multiple system atrophy.

Hara K, Momose Y, Tokiguchi S, Shimohata M, Terajima K, Onodera O, Kakita A, Yamada M, Takahashi H, Hirasawa M, Mizuno Y, Ogata K, Goto J, Kanazawa I, Nishizawa M, Tsuji S.

Arch Neurol. 2007 Apr;64(4):545-51.

PubMed [citation]
PMID:
17420317

Details of each submission

From OMIM, SCV000082905.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Jeon et al. (2014) noted that this mutation is a c.382A-G transition in the COQ2 gene, resulting in a met128-to-val (M128V) substitution, based on the NCBI reference sequence (NM_015697.7) and not a met78-to-val substitution as originally published by The Multiple-System Atrophy Research Collaboration (2013).

In 2 Japanese sibs, born of consanguineous parents, with multiple system atrophy-1 (MSA1; 146500), originally reported by Hara et al. (2007), The Multiple-System Atrophy Research Collaboration (2013) identified a homozygous met128-to-val substitution in the COQ2 gene. The mutation, which was found by linkage analysis combined with whole-genome sequencing, was not found in a large control database or in 360 control Japanese alleles. Each sib also carried a homozygous val393-to-ala (V393A; 609825.0007) substitution that was found in heterozygous state in 5 of 360 control Japanese alleles. An unaffected sib did not carry either variant, and family history indicated that the parents, each of whom was an obligate carrier of both variants, showed no signs of the disorder. In vitro functional expression assays in yeast Coq2-null strains demonstrated that the M128V variant showed severely decreased growth similar to the null strain. Patient cerebellar tissue from a homozygous carrier showed severely decreased intracellular levels of COQ2.

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

Last Updated: Aug 21, 2016