FIGURE
Fig. 2
- ID
- ZDB-FIG-240129-2
- Publication
- Koop et al., 2023 - Macrocephaly and developmental delay caused by missense variants in RAB5C
- Other Figures
- (all 8)
- All Figure Page
- Back to All Figure Page
Fig. 2
RAB5C is depicted along with known G-motifs (green bars). Missense mutations as retrieved from gnomAD are depicted with gray bars. Rab5c variants found in patients are depicted in triangles (missense) and asterisk (frameshift). Note that most missense mutations localize to a G-motif that is essential in nucleotide binding, except for one patient (I129N) that had a relatively mild phenotype. Variants used for further functional characterization in bold. |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
This image is the copyrighted work of the attributed author or publisher, and
ZFIN has permission only to display this image to its users.
Additional permissions should be obtained from the applicable author or publisher of the image.
Full text @ Hum. Mol. Genet.