MMUT
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
MMUT (HGNC:7526) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
methylmalonyl-CoA mutase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
MUT
Alias symbols
MCM
%HI
1.8(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.18(Read more about gnomAD LOEUF score)
Cytoband
6p12.3
Genomic Coordinates
GRCh37/hg19: chr6:49398073-49430966 NCBI Ensembl UCSC
GRCh38/hg38: chr6:49430360-49463253 NCBI Ensembl UCSC
MANE Select Transcript
NM_000255.4 ENST00000274813.4 (Read more about MANE Select)
Function
Catalyzes the reversible isomerization of methylmalonyl-CoA (MMCoA) (generated from branched-chain amino acid metabolism and degradation of dietary odd chain fatty acids and cholesterol) to succinyl-CoA (3-carboxypropionyl-CoA), a key intermediate of the tricarboxylic acid cycle. {ECO:0000269|PubMed:1346616, ECO:0000269|PubMed:1978672, ECO:0000269|PubMed:21138732, ECO:0000269|PubMed:24458, ECO:0000269|PubMed:2453061, ECO:0000269|PubMed:25125334, ECO:0000269|PubMed:27167370, ECO:0000269|PubMed:28... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2504
ClinGen Curation ID:
CCID:007476
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/25/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Monarch
HI Evidence Comments:
Homozygous or compound heterozygous loss-of-function variants in the MUT gene cause autosomal recessive methylmalonic acidemia (GeneReviews). Most pathogenic variants are sequence-level changes, although Acquaviva et al. observed an exon-level deletion in a patient who also carried a pathogenic splicing variant (c.2124+1G>A) on the opposite allele.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)