Fig. 1: Location within the MBD4 protein sequence (PFAM domains) of the pathogenic variants identified to date.
From: MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes
Homozygous and compound heterozygous variants identified in MANS patients (Table S1) are represented in the upper part of the figure, while heterozygous variants associated with monoallelic cancer predisposition (Table S4) are represented in the bottom. Black dots represent truncating mutations, including nonsense, frameshift deletions or insertions and splice-site variants. Grey dots indicate missense variants and in-frame deletions or insertions. Position of the protein domains: Methyl-CpG binding ___domain (MBD), 80–149 amino acids; DNA glycosylase, 461–535 amino acids.
