Fig. 3

Genetic Landscape of MSUD Variants in the MENAT Population. The map visually presents the distribution of reported MSUD variants within the MENAT population. Triangle-shaped icons denote shared variants, while pentagon-shaped icons represent unique variants. To determine the uniqueness or shared nature of these variants across ethnicities, each variant underwent individual scrutiny through diverse databases including ClinVar, InterVar, Google Scholar, and gnomAD, as well as the Human Genome Mutation Database (HGMD) and Exome Variant Server (EVS). Shared variants, reported in patients or submitted to ClinVar, gnomAD, or published literature, are meticulously recorded with details on other populations reporting them, along with allele frequency and zygosity information. Variants absent from these databases are considered unique to the MENAT region. Abbreviations: KSA - Kingdom Saudi Arabia, HO - Homozygous, CH - Compound Heterozygous, MSUD - Maple Syrup Urine Disease