R32K (p.Arg32Lys) variant of HBA1 (Hemoglobin subunit alpha)
R32K (p.Arg32Lys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Heinz body anemia; alpha Thalassemia; Erythrocytosis, familial, 7. The record also includes published literature and structural context.
R32K (p.Arg32Lys) variant details
- p.Arg32Lys
- ExAC rs281864580
- gnomAD rs281864580
- Likely pathogenic
- Heinz body anemia; alpha Thalassemia; Erythrocytosis, familial, 7
- Missense
- ClinVar: Likely pathogenic (Heinz body anemia; alpha Thalassemia; Erythrocytosis, familial,)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Alpha2(CD31 AGG-->AAG, Arg-->Lys) causing non-deletional alpha-thalassemia in a Chinese family with HbH disease. (PMID 11410421)