Rs587777149

rs587777149 is a SNP in the CD59 gene. Both a missense mutation and a deletion mutation have been observed at this SNP, and both are reported as recessive mutations.

The deletion mutation was originally observed in a 7 month old baby with inherited CD59 deficiency, who went on to develop hemolytic anemia with progressive neurologic deterioration. She improved after treatment with the anti-C5 monoclonal antibody eculizumab. Her parents were both unaffected heterozygotes. See also OMIM 107271.0003

The missense mutation consists of a T>A change (plus strand orientation). This change was found in a multiplex family with strokes, chronic immune-mediated peripheral neuropathy, and hemolysis, all with onset in infancy. Heterozygotes were unaffected.