A39P (p.Ala39Pro) variant of FBN1 (Fibrillin-1)
A39P (p.Ala39Pro) in FBN1 (Fibrillin-1) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of found in a patient with Marfan-like syndrome. The record also includes published literature.
A39P (p.Ala39Pro) variant details
- p.Ala39Pro
- UniProt VAR 075984
- Pathogenic
- found in a patient with Marfan-like syndrome
- Missense
- EBI: Pathogenic (found in a patient with Marfan-like syndrome)
- UniProt: Pathogenic (found in a patient with Marfan-like syndrome)
- Cited in: FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations. (PMID 18435798)