S280I (p.Ser280Ile) variant of LOX (Protein-lysine 6-oxidase)
S280I (p.Ser280Ile) in LOX (Protein-lysine 6-oxidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Aortic aneurysm, familial thoracic 10; Acute aortic dissection; Congenital aneur. The record also includes published literature and structural context.
S280I (p.Ser280Ile) variant details
- p.Ser280Ile
- rs886040965
- ClinGen CA10590101
- ClinVar RCV000258025
- ClinVar RCV000755148
- Pathogenic
- Aortic aneurysm, familial thoracic 10; Acute aortic dissection; Congenital aneur
- Missense
- ClinVar: Pathogenic (Aortic aneurysm, familial thoracic 10; Acute aortic dissection;)
- EBI: Pathogenic (in AAT10)
- UniProt: Pathogenic (in AAT10)
- Structural context available
- Cited in: LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. (PMID 26838787)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)