S42F (p.Ser42Phe) variant of STXBP1 (Syntaxin-binding protein 1)
S42F (p.Ser42Phe) in STXBP1 (Syntaxin-binding protein 1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in DEE4. The record also includes published literature and structural context.
S42F (p.Ser42Phe) variant details
- p.Ser42Phe
- UniProt VAR 078631
- Pathogenic
- in DEE4
- Missense
- EBI: Pathogenic (in DEE4)
- UniProt: Pathogenic (in DEE4)
- Structural context available
- Cited in: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. (PMID 23708187)
- Cited in: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. (PMID 18469812)