R589C (p.Arg589Cys) variant of SLC4A1 (Band 3 anion transport protein)
R589C (p.Arg589Cys) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren. The record also includes published literature and structural context.
R589C (p.Arg589Cys) variant details
- p.Arg589Cys
- rs121912745
- ClinGen CA127388
- ClinVar RCV000019341
- ClinVar RCV000681873
- Pathogenic/Likely pathogenic
- Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dominant distal ren
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spherocytosis type 4; Cryohydrocytosis; Autosomal dom)
- EBI: Pathogenic (in DRTA1)
- UniProt: Pathogenic (in DRTA1)
- Structural context available
- Cited in: Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. (PMID 9312167)
- Cited in: Hereditary Distal Renal Tubular Acidosis. (PMID 31600044)