case_images: PMC10830771_01
case_images: PMC10830771_02
case_images: PMC10830771_03
case_images: PMC10830771_04
case_images: HTRA2 protein structure with disease-causing variants and the family pedigree of the proband (A). The VanDyPlot v0.1.1 depicts the ClinVar database pathogenic variants plotted on the HTRA2 protein (UniProt ID: 043464). Variants are shown at their predicted protein position as colored circles reflecting the effect type, with the two missense variants (black lollipops) reported here shown in orange arrows, and the two blue lollipops at position 221 and 315 were the missense variants reported from the literature. The HTRA2 protein domain annotations are retrieved from Pfam database of curated protein families (B). Family pedigree showing the inheritance of two pathogenic compound heterozygous variants of the HTRA2 gene in the proband.
case_images: fgene-14-1298574-g001.jpg
case_images: PMC10830771_05_fgene-14-1298574-g001.jpg
case_images: F1
case_images: At present, the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) contains 9 pathogenic/likely pathogenic variants in HTRA2 (excluding large events and structural variants), including 6 truncating variants (3 frameshift, 2 nonsense, 1 splice site) and 3 nonsynonymous variants (2 missense, 1 inframe indel), see Figure 1A.
case_images: PMC10830771_05
case_images: HTRA2 protein structure with disease-causing variants and the family pedigree of the proband (A). The VanDyPlot v0.1.1 depicts the ClinVar database pathogenic variants plotted on the HTRA2 protein (UniProt ID: 043464). Variants are shown at their predicted protein position as colored circles reflecting the effect type, with the two missense variants (black lollipops) reported here shown in orange arrows, and the two blue lollipops at position 221 and 315 were the missense variants reported from the literature. The HTRA2 protein domain annotations are retrieved from Pfam database of curated protein families (B). Family pedigree showing the inheritance of two pathogenic compound heterozygous variants of the HTRA2 gene in the proband.
case_images: fgene-14-1298574-g001.jpg
case_images: PMC10830771_05_fgene-14-1298574-g001.jpg
case_images: F1
case_images: At present, the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar) contains 9 pathogenic/likely pathogenic variants in HTRA2 (excluding large events and structural variants), including 6 truncating variants (3 frameshift, 2 nonsense, 1 splice site) and 3 nonsynonymous variants (2 missense, 1 inframe indel), see Figure 1A.
case_images: PMC10830771_06
case_images: PMC10830771_07