rs61732144
This is a variant in the ACADS gene that changes a arginine to an cysteine.
▶ClinVar annotation
Deficiency of butyryl-CoA dehydrogenase (ACADSD); Inborn genetic diseases
View on ClinVar →▶Research that mentions this SNP (1)
▶Disease variants in genomes of 44 centenariansCase reportN=44Yun Freudenberg‐Hua et al.(2014)· Molecular Genetics & Genomic Medicine
Whole genome sequencing of 44 Ashkenazi Jewish centenarians identified 216 coding variants annotated as pathogenic or likely pathogenic in ClinVar. The study found 130 rare variants (MAF <5%) reported to cause degenerative, neoplastic, and cardiac diseases with various inheritance patterns. Notably, several carriers had no clinical manifestations despite carrying variants linked to serious diseases (e.g., an APOE ε4 homozygote without Alzheimer's disease, a UBQLN2 P525S carrier without ALS). These findings suggest incomplete penetrance and reduced clinical significance for many reported disease mutations.
About ACADS
This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]
View all ACADS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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