Fig. 4
From: A novel de novo CLTC variant altering RNA splicing causes fetal developmental abnormalities
The MT of CLTC decreased the protein expression. A Schematic diagram of the fabricated plasmid from CLTC-WT and CLTC-MT with exon19 to exon23 (E19-E23) and exon19 to exon21 (E19-E21). B-D After transfection of the CLTC-coEGFP expression vector to the HEK293T, the MTÂ (both exon 19-exon 21 and exon 19-23) was observed much lower than the WT. The predicted WTÂ (E19-E23) was 65.8Â kDa and the MT (p.Val1084LeufsTer7) was 46.3kDa. The predicted WT (E19-E21)Â was 53.1Â kDa and the MT was 46.3Â kDa