A1728T (p.Ala1728Thr) variant of FBN1 (Fibrillin-1)
A1728T (p.Ala1728Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect. The record also includes variant effect predictions and published literature.
A1728T (p.Ala1728Thr) variant details
- p.Ala1728Thr
- rs387906624
- ClinGen CA015690
- ClinVar RCV000022546
- ClinVar RCV000022547
- Pathogenic/Likely pathogenic
- Connective tissue disorder; Familial thoracic aortic aneurysm and aortic dissect
- Missense
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.90
- ClinVar: Pathogenic/Likely pathogenic (Connective tissue disorder; Familial thoracic aortic aneurysm an)
- EBI: Pathogenic (in GPHYSD2 and ACMICD)
- UniProt: Pathogenic (in GPHYSD2 and ACMICD)
- Cited in: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. (PMID 1852206)
- Cited in: Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. (PMID 21683322)