Fig. 1.

Identification of a de novo RING1 missense mutation. (A) Sanger sequence traces indicate that RING1 c.284G > A (p.R95Q) is heterozygous in the patient and absent from the father and mother. (B) Protein sequence alignments of the RING domains of RING1 orthologs. The altered arginine residue is indicated in red. Conserved zinc-coordinating residues are highlighted in yellow. Residues that contact the nucleosome in the RING2 3D structure (PDB ID code 4R8P) are indicated by dots above the alignment.