NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) AND METHYLMALONIC ACIDURIA, mut(0) TYPE

Clinical significance:Pathogenic (Last evaluated: Apr 1, 1994)

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:
RCV000001961.3

Allele description [Variation Report for NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)]

NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)

Gene:
MMUT:methylmalonyl-CoA mutase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p12.3
Genomic location:
Preferred name:
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
HGVS:
  • NC_000006.12:g.49440295C>T
  • NG_007100.1:g.27845G>A
  • NM_000255.4:c.1867G>AMANE SELECT
  • NP_000246.2:p.Gly623Arg
  • NC_000006.11:g.49408008C>T
  • NM_000255.1:c.1867G>A
  • NP_000246.1:p.Gly623Arg
  • NP_000246.1:p.Gly623Arg
  • P22033:p.Gly623Arg
Protein change:
G623R; GLY623ARG
Links:
UniProtKB: P22033#VAR_004420; OMIM: 609058.0008; dbSNP: rs121918254
NCBI 1000 Genomes Browser:
rs121918254
Molecular consequence:
  • NM_000255.4:c.1867G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
METHYLMALONIC ACIDURIA, mut(0) TYPE
Identifiers:
MedGen: C1855115

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022119OMIMno assertion criteria providedPathogenic
(Apr 1, 1994)
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

Cloning and expression of mutations demonstrating intragenic complementation in mut0 methylmalonic aciduria.

Qureshi AA, Crane AM, Matiaszuk NV, Rezvani I, Ledley FD, Rosenblatt DS.

J Clin Invest. 1994 Apr;93(4):1812-9.

PubMed [citation]
PMID:
7909321
PMCID:
PMC294249

Details of each submission

From OMIM, SCV000022119.2

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

Description

In an African American male infant with MMA mut(0) (251000), Qureshi et al. (1994) identified compound heterozygosity for 2 mutations in the MUT gene: gly623-to-arg (G623R) and gly703-to-arg (G703R; 609058.0009). Cotransfection of each mutation with the R93H mutation mutation (609058.0004) stimulated propionate uptake, indicating that both mutations were independently capable of complementing the R93H mutation, whereas the G717V mutation (609058.0005) did not complement the G623R cell line. Qureshi et al. (1994) found that the MUT mutations identified in cell lines that exhibit intragenic complementation to G623R do not exhibit any specific pattern of charge or amino acid structure. Furthermore, neither the mut(0) versus mut(-) phenotype nor intragenic complementation could be predicted by the relative primary amino acid position.

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

Last Updated: Nov 20, 2021

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