FIGURE

Figure 3

ID

ZDB-FIG-220324-18

Publication

Corral-Juan et al., 2022 - New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49)

Other Figures

All Figure Page

Back to All Figure Page

Figure 3

Genome-wide linkage analysis in combination with whole-exome NGS sequencing identifies the c.1877C > T (p.Ser626Leu) mutation within the SAMD9L gene on 7q21 as the causative mutation. (A) LOD score plots for chromosomal region 7q21. (B) The c.1877C > T (p.Ser626Leu) SAMD9L variant is predicted as deleterious by six in silico algorithms. (C) The mutated amino acid was found highly conserved. (D) HHpred protein sequence profile predictor identified protein motifs significantly similar to SAM, AAA+ ATP-ase/Hydrolase and Apaf-1 ADP bound domains. SAMD9L contains motifs enriched in microtubule-binding proteins. (E) The p.Ser626Leu localizes within the microtubule predicted motif S….LKS in human SAMD9L.

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 @ Brain Commun