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. 2021 May 5;9(7):e1686. doi: 10.1002/mgg3.1686

FIGURE 2.

FIGURE 2

Pedigree diagram of the Chinese family with PLS (a). Sequence analysis of exon 6 of the cathepsin C gene. Wild‐type unaffected individuals showed normal sequence. Carriers showed a heterozygous mutation. The affected individual showed a homozygous variant with a T>C change at nucleotide 763 (d). Het, heterozygous; WT, wild‐type; Wt hom, wild‐type homozygous; Mt het: heterozygous Mutation; Mt homozygous: homozygous mutation. Multiple‐sequence alignment of CTSC proteins from different species, and the 255th amino acid residue is located in exon 6 of the heavy chain and is highly conserved among species (b) and (c)