Rs28934895

rs28934895, also known as R183P, is a mutation (rare SNP) in the branched chain keto acid dehydrogenase E1, beta polypeptide BCKDHB gene. The common allele is rs28934895(G), encoding arginine (R) at amino acid position 183.

With a frequency of about 1 in 100 among Jews of European descent, the much rarer rs28934895(C) allele encodes a proline (P), and it is the most frequent mutation leading to Maple Syrup Urine Disease, accounting for perhaps 90% of the mutations in this population group. However, by itself the mutation does not predict the severity of the disease; note also that only homozygotes (rs28934895(C;C)) are at risk for the disease.

This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.

Note also that 23andMe uses a different name for this SNP; in their terminology, rs28934895 is called i3002808.


 * is_associated_with_disease::Maple syrup urine disease