Skip to main content
Fig. 3 | Human Genomics

Fig. 3

From: Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly

Fig. 3

Predicted effects of 29T>C, 30G>A, 50G>A, 51G>A and 53C>G on the 5′ stem-loop structure of U4atac. Secondary structures of the wild-type and corresponding mutant sequences between positions 20 and 58 of U4atac (see Fig. 2b) were predicted by Mfold under default parameters, with the lowest energy structures being shown. In the wild-type panel, the solid-boxed area indicates the canonical stem of the 5′ stem-loop structure in accordance with [53, 54]; the dotted-boxed area indicates the mutational hotspot region for MOPD1-causative variants; all six known MOPD1-causative SNVs as well as the newly found 29T>C variant occurring within the mutational hotspot region are also indicated. In the mutant panels, the respective variants are indicated by arrows

Back to article page

Human Genomics

ISSN: 1479-7364