G357R (p.Gly357Arg) variant of TGFBR2 (TGF-beta receptor type-2)
G357R (p.Gly357Arg) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 2. The record also includes published literature and structural context.
G357R (p.Gly357Arg) variant details
- p.Gly357Arg
- UniProt VAR 076170
- Likely pathogenic
- Loeys-Dietz syndrome 2
- Missense
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 2)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available
- Cited in: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. (PMID 19533785)
- Cited in: Heterozygous TGFBR2 mutations in Marfan syndrome. (PMID 15235604)