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NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) AND METHYLMALONIC ACIDURIA, mut(0) TYPE

Significance: Pathogenic
ClinVar: RCV000001954

Variant: NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)

Type: Variant
Allele: NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) 16916
Gene:
Type: single nucleotide variant
Location: Chr6: 49459415 - assembly GRCh38
Chr6: 49427128 - assembly GRCh37
References: dbSNP: 121918248
OMIM: 609058.0001

Condition

Disease: METHYLMALONIC ACIDURIA, mut(0) TYPE

Citation

    Fenton et al. (1987) identified a mutation in the MUT gene that appeared to represent an amino-terminal deletion that removed the leader peptide necessary for proper uptake and cleavage of the precursor. Ledley et al. (1990) identified a C-to-T transition in the MUT gene, resulting in a gln17-to-ter (Q17X) substitution in the mitochondrial leader sequence of the protein as a cause of mut(0) MMA (251000). Cells carrying this mutation produced immunoreactive protein translated from AUG codons downstream from the termination codon and, therefore, lack a mitochondrial leader peptide.
PMID:2453061, PMID:2881300