FIGURE

FIGURE 4

ID
ZDB-FIG-191230-1124
Publication
Wang et al., 2019 - Whole-Exome Sequencing Identifies Damaging de novo Variants in Anencephalic Cases
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FIGURE 4

WIPI1 variants and their expression of mRNA and protein. Human HEK 293 cells were cotransfected with pIRES2-dsRed and WIPI1 variants. At 48 h post-transfection, the cells were harvested for real-time PCR and Western blotting. (A)WIPI1 mRNA expression level was not influenced by WIPI1 R328Q, G313R, T418M, or L406P mutations. (B)WIPI1 L406P mutation affected WIPI1 protein expression, while WIPI1 R328Q, G313R, or T418M had no adverse effects on WIPI1 protein expression. (C) Relative WIPI1 mutant protein expression analysis. The data were derived from three independent experiments and expressed as mean ± SD. Data for WIPI1 mRNA and expression were normalized by GAPDH for each sample. Error bars represent standard error/deviation of the mean. The asterisk indicates a statistically significant difference between wild-type and L406P mutation (∗∗P < 0.01; P < 0.05).

Expression Data

Expression Detail
Antibody Labeling
Phenotype Data

Phenotype Detail
Acknowledgments
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