Figure 2 of Seo, Mol Vis 2024; 30:58-66.


Figure 2. Previously reported variants and conservation map of novel variants in PRDM13. A: Schematic of the two identified novel variants associated with North Carolina macular dystrophy at the 6q15 locus in the UCSC genome browser. V17 (GRCh38/hg38 chr6:99,598,914T>C in Family A) and V18 (GRCh38/hg38 chr6:99,598,926G>A) were located between V10 and V11 (mutational hotspot-2). B: Conservation map for V17 and V18 in 28 mammals. Both variants are well conserved within primates and mammals.