S149F (p.Ser149Phe) variant of FLNA (Filamin-A)
S149F (p.Ser149Phe) in FLNA (Filamin-A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in PVNH1. The record also includes published literature and structural context.
S149F (p.Ser149Phe) variant details
- p.Ser149Phe
- UniProt VAR 031307
- Pathogenic
- in PVNH1
- Missense
- EBI: Pathogenic (in PVNH1)
- UniProt: Pathogenic (in PVNH1)
- Structural context available
- Cited in: Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. (PMID 15249610)
- Cited in: Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. (PMID 11532987)