FIGURE 3

FIGURE 3

The variant p. Asp124Asn of RAB11A (A,B) The angles among the nearest contact residues and the wild-type or mutated residues were also measured. Wild-type and mutated residues are depicted by orange sticks, while contact atoms are represented by gray colors. Yellow dotted lines indicate hydrogen bonds. (C) Pathogenicity prediction of the RAB11A missense variant (c.370A>C) using multi-algorithm consensus. Functional impact of the RAB11A mutation (p.N124D) was evaluated by bioinformatic tools based on distinct principles. Evolutionary conservation: GERP++, phyloP. Structural/physicochemical properties: SIFT, PolyPhen-2_HDIV/HVAR, FATHMM-MKL. Machine learning integration: Alphamissense, REVEL, CADD, DANN, Eigen. Pathogenicity probability: MutationTaster, LRT, fitCons, GenoCanyon. (D) Multiple-sequence alignment in RAB11A from different species. The variant was pointed out in red. Conserved protein sequence alignment across 7 species validates critical residue position.