Fig. 1

RIPPLY3 variants in CTD patients. a–d 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