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Figure 2. . Schematic diagram showing the basic protein structure of a keratin filament.

Figure 2.

Schematic diagram showing the basic protein structure of a keratin filament. The α-helical rod domain is divided into four domains: 1A, 1B, 2A, and 2B, connected by non-helical linkers L1, L12, and L2. At the ends of the rod domain are the helix initiation motif (shaded red) and helix termination motif (shaded red) that are highly conserved in sequence between keratins. The majority of pathogenic variants found in PC in KRT6A, KRT6B, KRT6C, KRT16, and KRT17 fall within these highly conserved domains.

From: Pachyonychia Congenita

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Smith FJD, Hansen CD, Hull PR, et al. Pachyonychia Congenita. 2006 Jan 27 [Updated 2017 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Figure 2. [Schematic diagram showing the basic...].
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