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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)