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Fig. 2 | BMC Medical Genetics

Fig. 2

From: A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Fig. 2

In silico predictions of the impact of NM_004247.4 (EFTUD2): c.702G > T variant on splicing. a Screenshot of in silico predictions of the impact of EFTUD2 c.702G > T variant using Alamut software. Three out of five tools predicted that the G > T variant creates a new 5′ donor splicing site (red circle) in the mutated sequence (bottom rectangle) compared to wildtype sequence (top rectangle). The exon 9 (red) and intron 9 (blue) are highlighted on the Figure. b The table represents the splicing scores for the new 5′ donor splicing site by the five predicators tools. The threshold score to reach predicting the presence of a donor splice site is indicated for each predicator tool

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