R760W (p.Arg760Trp) variant of SLC4A1 (Band 3 anion transport protein)
R760W (p.Arg760Trp) 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 not provided; Hereditary spherocytosis type 4. The record also includes population frequency data, published literature, and structural context.
R760W (p.Arg760Trp) variant details
- p.Arg760Trp
- rs373916826
- ClinGen CA8600090
- ClinVar RCV000989925
- ClinVar RCV002227236
- Pathogenic/Likely pathogenic
- not provided; Hereditary spherocytosis type 4
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary spherocytosis type 4)
- EBI: Pathogenic (in SPH4)
- UniProt: Pathogenic (in SPH4)
- Population evidence available
- Structural context available
- Cited in: Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. (PMID 10745622)
- Cited in: Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger. (PMID 11208088)