FIGURE

Fig. 2

ID

ZDB-FIG-251017-6

Publication

Xian et al., 2025 - ATP5F1A deficiency causes developmental delay and motor dysfunction in humans and zebrafish

Other Figures

All Figure Page

Back to All Figure Page

Fig. 2

Distribution and conservation analysis of ATP5F1A pathogenic variants. A) Spatial distribution of 7 variants in the three-dimensional structure of human ATP5F1A protein. B Distribution of mutation sites in the ATP5F1A protein domains. Domain definitions are based on the InterPro database: ATP-synt_ab_N (β-barrel domain, InterPro: IPR000568), F1-ATPase_alpha_CD (nucleotide binding domain, InterPro: IPR000793), ATP-synt_ab_C (C-terminal catalytic domain, InterPro: IPR000194). Generated using IBS 2.0. C Conservation analysis of multiple sequences of ATP5F1A protein. The black line indicates the ConSurf conservation score (based on UniRef90 alignment, Bayesian algorithm), with a score of 1–9 (gradient blue-red, 1 = variable, 9 = highly conserved). Mutation sites are marked with vertical lines

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 @ J Transl Med