|| Maple Syrup Urine disease
|| carrier of Maple Syrup Urine disorder allele
|| common in clinvar
, formerly known as rs28934895
and more commonly 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.[PMID 11509994]
This SNP is often included in screening panels for carriers of deleterious mutations among Ashkenazi Jews, such as carrier screens for prospective parental couples.