IMAGE
Fig. 1
- ID
- ZDB-IMAGE-251017-5
- Publication
- Xian et al., 2025 - ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish
- All Figures
- Figures for Xian et al., 2025
Image
|
Figure Caption
Fig. 1 Identification of a de novo ATP5F1A mutation. A Pedigree chart. Arrow indicates the proband (II-1). The solid symbol indicates the affected individual (square for males and round for females). B Sanger sequencing confirming the de novo heterozygous c.1252G > A (p. Gly418Arg) variant in ATP5F1A (NM_001001937.2). (C) Evolutionary conservation analysis of glycine-418 demonstrates complete conservation at this residue position across vertebrate species. (D) Structural simulation of ATP5F1A wild-type and mutant(p. Gly418Arg)protein. Models generated using SwissModel and visualized with PyMOL
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 @ J Transl Med