I24S (p.Ile24Ser) variant of SPTA1 (P02549)
I24S (p.Ile24Ser) in SPTA1 (P02549) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in EL2. The record also includes published literature.
I24S (p.Ile24Ser) variant details
- p.Ile24Ser
- UniProt VAR 001324
- Pathogenic
- in EL2
- Missense
- EBI: Pathogenic (in EL2)
- UniProt: Pathogenic (in EL2)
- Cited in: Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a… (PMID 8018926)
- Cited in: A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis… (PMID 1541680)