A83D (p.Ala83Asp) variant of ADA (Adenosine deaminase)
A83D (p.Ala83Asp) in ADA (Adenosine deaminase) is a missense change. The available record places it in the context of Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n. The record also includes population frequency data, published literature, and structural context.
A83D (p.Ala83Asp) variant details
- p.Ala83Asp
- rs121908726
- ClinGen CA266001
- ClinVar RCV000059097
- UniProt VAR 002215
- not provided
- Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-n
- Missense
- ClinVar: not provided (Severe combined immunodeficiency, autosomal recessive, T cell-ne)
- EBI: Pathogenic (in ADASCID)
- UniProt: Pathogenic (in ADASCID)
- Population evidence available
- Structural context available
- Cited in: Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site. (PMID 7599635)
- Cited in: Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined… (PMID 10200056)