S60C (p.Ser60Cys) variant of NOTCH3 (Q9UM47)
S60C (p.Ser60Cys) in NOTCH3 (Q9UM47) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in CADASIL1. The record also includes published literature and structural context.
S60C (p.Ser60Cys) variant details
- p.Ser60Cys
- UniProt VAR 044233
- Pathogenic
- in CADASIL1
- Missense
- EBI: Pathogenic (in CADASIL1)
- UniProt: Pathogenic (in CADASIL1)
- Structural context available
- Cited in: Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. (PMID 15364702)
- Cited in: Spectrum of mutations in biopsy-proven CADASIL: implications for diagnostic strategies. (PMID 16009764)