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Fig. 1 | Journal of Translational Medicine

Fig. 1

From: A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Fig. 1

RIPPLY3 variants in CTD patients. ad Chromatograms of the RIPPLY3 variants found in CTD patients. The arrow indicates the heterozygous nucleotides of C/T (a), C/G (b), G/A (c) or T/A (d) in four CTD patients, or the homozygous nucleotides of C/C (a), C/C (b), G/G (c) or T/T (d) in the control individuals (wild-type); e structural representations of the variants in RIPPLY3 protein. f Alignment of multiple RIPPLY3 protein sequences among species. The altered amino acids of P30 and T52 are shown to be highly conserved evolutionarily across various species

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