CD59
Chr 11ARCD59 molecule (CD59 blood group)
Also known as: 16.3A5, 1F5, EJ16, EJ30, EL32, G344, HRF-20, HRF20
This gene encodes CD59, a cell surface glycoprotein that inhibits the complement membrane attack complex by binding to C8 and preventing incorporation of multiple C9 copies required for osmolytic pore formation. Mutations cause CD59 deficiency with autosomal recessive inheritance, resulting in hemolytic anemia and thrombosis that can lead to cerebral infarction, with or without immune-mediated polyneuropathy. The condition affects the hematologic system and can cause neurologic complications including stroke.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CD59 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools