E28K (p.Glu28Lys) variant of HBA1 (Hemoglobin subunit alpha)
E28K (p.Glu28Lys) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as other in the context of HEMOGLOBIN SHUANGFENG. The record also includes published literature and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- Ensembl rs281864824
- other
- HEMOGLOBIN SHUANGFENG
- Missense
- ClinVar: other (HEMOGLOBIN SHUANGFENG)
- UniProt: Other (in Spanish town)
- Structural context available
- Cited in: Hemoglobin Shuangfeng (alpha 27 (B8) Glu substituting for Lys): a new unstable hemoglobin variant. (PMID 7338471)