A1459D (p.Ala1459Asp) variant of MTOR (P42345)
A1459D (p.Ala1459Asp) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Isolated focal cortical dysplasia type II. The record also includes published literature and structural context.
A1459D (p.Ala1459Asp) variant details
- p.Ala1459Asp
- rs1644347782
- ClinGen CA338371975
- ClinVar RCV003456322
- UniProt VAR 078828
- Pathogenic
- Isolated focal cortical dysplasia type II
- Missense
- ClinVar: Pathogenic (Isolated focal cortical dysplasia type II)
- EBI: Pathogenic (in FCORD2)
- UniProt: Pathogenic (in FCORD2)
- Structural context available
- Cited in: Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb. (PMID 26018084)
- Cited in: Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. (PMID 25799227)