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

Significance: Pathogenic
ClinVar: RCV000001961

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

Type: Variant
Allele: NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) 16923
Gene:
Type: single nucleotide variant
Location: Chr6: 49440295 - assembly GRCh38
Chr6: 49408008 - assembly GRCh37
References: dbSNP: 121918254
OMIM: 609058.0008
UniProtKB: P22033#VAR_004420

Condition

Disease: METHYLMALONIC ACIDURIA, mut(0) TYPE

Citation

    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.
PMID:7909321