R5340L (p.Arg5340Leu) variant of KMT2D (O14686)
R5340L (p.Arg5340Leu) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome; not provided. The record also includes published literature and structural context.
R5340L (p.Arg5340Leu) variant details
- p.Arg5340Leu
- UniProt VAR 063833
- Pathogenic
- Kabuki syndrome; not provided
- Missense
- ClinVar: Pathogenic (Kabuki syndrome; not provided)
- EBI: Pathogenic (in KABUK1)
- UniProt: Pathogenic (in KABUK1)
- Structural context available
- Cited in: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. (PMID 20711175)
- Cited in: Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. (PMID 21671394)