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Publication: Mattioli et al., 2025 - Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies
All Figures: Figures for Mattioli et al., 2025

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Fig. 1

Identified biallelic variants in BRF2. A Pedigrees and the genotypes of the reported families. The offsprings of Icelandic families 1–3 were born in the 1970s, the 1950s, and 1920s, respectively. B 3D protein modelling of the identified missense variants. Pro261 highlighted in yellow is in close vicinity with the DNA backbone between two phosphate groups (left panel); the Pro261 is replaced by a Leucine highlighted in yellow in the middle panel. The bulkier sidechain of Leu261 will likely collide with the DNA. The right panel presents a schematic representation of the zinc-finger highlighting the conserved residues Gly11 (purple), Asp30 (dark blue), Gly32 (light blue), and Pro8 (gold). Coordination of the zinc-atom (gray) by the four conserved Cysteine (shown in sidechains) will expose the sidechains of Pro8, Gly11, Asp30, and Gly32

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