K41M (p.Lys41Met) variant of HBA1 (Hemoglobin subunit alpha)
K41M (p.Lys41Met) in HBA1 (Hemoglobin subunit alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic; other in the context of Erythrocytosis, familial, 7; HEMOGLOBIN KANAGAWA. The record also includes published literature and structural context.
K41M (p.Lys41Met) variant details
- p.Lys41Met
- Ensembl rs41416747
- Pathogenic; other
- Erythrocytosis, familial, 7; HEMOGLOBIN KANAGAWA
- Missense
- ClinVar: Pathogenic; other (Erythrocytosis, familial, 7; HEMOGLOBIN KANAGAWA)
- EBI: Pathogenic (in Kanagawa)
- UniProt: Pathogenic (in Kanagawa)
- Structural context available
- Cited in: Hb Kanagawa [alpha 40(C5)Lys----Met]: a new alpha chain variant with an increased oxygen affinity. (PMID 1634355)