S535F (p.Ser535Phe) variant of MCCC1 (Q96RQ3)
S535F (p.Ser535Phe) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 3-methylcrotonyl-CoA carboxylase 1 deficiency. The record also includes published literature and structural context.
S535F (p.Ser535Phe) variant details
- p.Ser535Phe
- rs119103216
- ClinGen CA251978
- cosmic curated COSV55608
- ClinVar RCV000002010
- Likely pathogenic
- 3-methylcrotonyl-CoA carboxylase 1 deficiency
- Missense
- ClinVar: Likely pathogenic (3-methylcrotonyl-CoA carboxylase 1 deficiency)
- EBI: Pathogenic (in MCC1D)
- UniProt: Pathogenic (in MCC1D)
- Structural context available
- Cited in: Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA… (PMID 11406611)
- Cited in: 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. (PMID 22642865)