rs1064651

rs1064651, also known as Asp448His or D448H, is a SNP in exon 9 of the GBA gene on chromosome 1. As the protein was originally numbered, though, this variation occurred at amino acid 409 (rather than 448), so the scientific literature still often refers to this mutation as Asp409His or D409H. Mutations in both copies of a person's GBA gene may lead to Gaucher's disease, an autosomal recessive disorder. When one of the mutations is the D409H mutation, the clinical description may be Gaucher disease type 3C, involving valvular heart disease. However, the clinical presentation appears to be highly variable as well as dependent on which two mutations are present. For more information, see OMIM 606463.0006. Be aware that since this mutation is due to a G>C (tranversion) when oriented in the direction the gene is transcribed, interpretation can be problematic due to orientation issues involving ambiguous flips.

G;G

This genotype technically represents carrying two copies of the D409H mutation in the GBA gene, and thus most likely a form of Gaucher's disease. However, errors in interpretation for C/G transversion mutatations occur far more frequently than Gaucher's disease does, so this is likely to actually be an error. Interpretation can be problematic due to orientation issues involving ambiguous flips

C;G

Unaffected in absence of a second GBA gene mutation; see text and links via main rs-page