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. 2024 May 10;15:3969. doi: 10.1038/s41467-024-48287-0

Fig. 1. p.R841H WWP2 variant.

Fig. 1

A Filtering process of the variants identified by whole exome sequencing. B Sanger sequencing profiles for the WWP2 p.R841H mutation in genomic DNA from the patient (P1) and her father (as a control). C Schematic representation of WWP2, featuring the different domains as well as the location of the missense variant p.R841H. WWP2 is composed of well-defined domains comprising the C2, WW, and Homologous to the E6-AP Carboxyl Terminus (HECT) domains. D Family pedigree with allele segregation. The patient is indicated by the arrow sign, whereas “mut” refers to the p.R841H allele and “WT” to a wild-type allele. GQ genotype quality, FS Fisher strand, VQSLOD variant quality score log odds ratio, ExcessHet Phred-scaled p-value for exact test of excess heterozygosity, AF allele frequency, gnomAD genome aggregation database, CADD combined annotation dependent depletion.