ZFIN Image: Corral-Juan et al., 2022, Figure 3

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Figure Caption

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.

Acknowledgments

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