Skip to main content
Fig. 4 | Genome Medicine

Fig. 4

From: The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

Fig. 4

Maternal variants potentially contributing to genome instability. a–c MdnCNV pedigrees with identified rare VUS maternal variants affecting genes involved in DNA repair or replicaion. d Bar plot shows the contribution of SBS signatures refitted by on genome-wide dnSNV. Predicted protein structure plots show the amino acid change in proximity to previously reported variants in protein ERCC4 (e) and MSH3 (f). Molecular modeling images were acquired from Varsite [33], with pathogenetic variants from ClinVar mapped. The amino acid residues in red reveal the change caused by variants reported here and the ones in purple or gray reveal the reported pathogenetic variants from ClinVar

Back to article page