FIGURE

Fig. 1

ID

ZDB-FIG-250417-109

Publication

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

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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

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

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