A53P (p.Ala53Pro) variant of TPO (Thyroid peroxidase)
A53P (p.Ala53Pro) in TPO (Thyroid peroxidase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in TDH2A. The record also includes published literature and structural context.
A53P (p.Ala53Pro) variant details
- p.Ala53Pro
- UniProt VAR 021622
- Pathogenic
- in TDH2A
- Missense
- EBI: Pathogenic (in TDH2A)
- UniProt: Pathogenic (in TDH2A)
- Structural context available
- Cited in: High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide… (PMID 12213873)
- Cited in: Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of… (PMID 10084596)