T139I (p.Thr139Ile) variant of MCCC2 (Q9HCC0)
T139I (p.Thr139Ile) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de. The record also includes published literature and structural context.
T139I (p.Thr139Ile) variant details
- p.Thr139Ile
- rs2530733439
- ClinGen CA360010415
- ClinVar RCV002640731
- ClinVar RCV004700980
- Likely pathogenic
- Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA carboxylase 2 de
- Missense
- ClinVar: Likely pathogenic (Methylcrotonyl-CoA carboxylase deficiency; 3-methylcrotonyl-CoA)
- EBI: Pathogenic (in MCC2D)
- UniProt: Pathogenic (in MCC2D)
- Structural context available
- Cited in: Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC… (PMID 25382614)
- Cited in: The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. (PMID 11170888)