C2522Y (p.Cys2522Tyr) variant of FBN1 (Fibrillin-1)
C2522Y (p.Cys2522Tyr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; Marfan. The record also includes published literature.
C2522Y (p.Cys2522Tyr) variant details
- p.Cys2522Tyr
- UniProt VAR 076148
- Likely pathogenic
- Marfan syndrome; Familial thoracic aortic aneurysm and aortic dissection; Marfan
- Missense
- ClinVar: Likely pathogenic (Marfan syndrome; Familial thoracic aortic aneurysm and aortic di)
- EBI: Pathogenic (in MFS)
- UniProt: Pathogenic (in MFS)
- Cited in: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. (PMID 19533785)
- Cited in: Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. (PMID 10425041)