M548K (p.Met548Lys) variant of DNMT3A (Q9Y6K1)
M548K (p.Met548Lys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The record also includes published literature and structural context.
M548K (p.Met548Lys) variant details
- p.Met548Lys
- rs587777509
- ClinGen CA163320
- ClinVar RCV000128561
- UniProt VAR 071465
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- EBI: Pathogenic (in TBRS)
- UniProt: Pathogenic (in TBRS)
- Structural context available
- Cited in: Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. (PMID 24614070)
- Cited in: Tatton-Brown-Rahman Syndrome. (PMID 35771960)