FIGURE
Fig. 1
- ID
- ZDB-FIG-251017-5
- Publication
- Xian et al., 2025 - ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish
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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 |
Expression Data
Expression Detail
Antibody Labeling
Phenotype Data
Phenotype Detail
Acknowledgments
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Full text @ J Transl Med