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. 2022 Aug 31;158(11):1245–1253. doi: 10.1001/jamadermatol.2022.2319

Figure 2. Additional Pathogenic Variants in PADI3.

Figure 2.

Electropherograms showing the newly discovered pathogenic variants c.60_66delinsTGCTTGG (p.Gly22Trp), c.505C>T (p.Gln169*) in heterozygosity and homozygous state, c.556C>T (p.Arg186Trp), c.652G>A (p.Gly218Ser), c.1114A>G (p.Arg372Gly), c.1115G>T (p.Arg372Met), c.1183del (p.Glu395Asnfs*7), and c.1868C>T (p.Pro623Leu) in comparison with the respective wild-type (WT) sequences. The 2 variants c.1114A>G (p.Arg372Gly) and c.1115G>T (p.Arg372Met) are located adjacently and therefore depicted below the same wild-type sequence. Of note, variant c.60_66delinsTGCTTGG (p.Gly22Trp) may also represent a rare haplotype composed of 3 single nucleotide variants, namely rs1360902614, rs1221559173, and rs1344213588, which have been observed in the same single individual (minor allele frequency = 6.5 × 10−6) in gnomAD (Genome Aggregation Database).