K8E (p.Lys8Glu) variant of HBA1 (Hemoglobin subunit alpha)
K8E (p.Lys8Glu) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in Kurosaki. The record also includes published literature and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- Ensembl rs281864807
- Benign
- in Kurosaki
- Missense
- EBI: Benign (in Kurosaki)
- UniProt: Benign (in Kurosaki)
- Structural context available
- Cited in: Hb Kurosaki [alpha7(A5)Lys -->Glu (AAG --> GAG)]: an alpha2-globin gene mutation found in Thailand. (PMID 15921168)
- Cited in: Hb Kurosaki [alpha 7(A5)Lys-->Glu]: a new alpha chain variant found in a Japanese woman. (PMID 7558876)