R45S (p.Arg45Ser) variant of SPTA1 (P02549)
R45S (p.Arg45Ser) in SPTA1 (P02549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Elliptocytosis 2; Pyropoikilocytosis, hereditary. The record also includes published literature.
R45S (p.Arg45Ser) variant details
- p.Arg45Ser
- rs121918637
- ClinGen CA122752
- ClinVar RCV000013702
- ClinVar RCV000013703
- Pathogenic
- Elliptocytosis 2; Pyropoikilocytosis, hereditary
- Missense
- ClinVar: Pathogenic (Elliptocytosis 2; Pyropoikilocytosis, hereditary)
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Cited in: Severe recessive poikilocytic anaemia with a new spectrin alpha chain variant. (PMID 2346729)
- Cited in: Sp alpha I/78: a mutation of the alpha I spectrin domain in a white kindred with HE and HPP phenotypes. (PMID 2568862)