Table 1.

Distribution of 26 disease-causing variations in human keratin protein domains

Searching the ClinVar database for coding variations in 54 human type I and type II keratin genes revealed 26 variations classified as pathogenic (this includes susceptibility to hepatitis C virus). Names of the disorders caused by variations in keratin-coding sequences are shown in the left column. Keratin genes are listed in the row at top. Domain locations for pathogenic variants are designated as: Top row: Head (red); 1A (blue), L1 (gold), 1B (blue); Middle row: L12 (gold), 2A (green), L2 (gold); Bottom row: 2B (green), Tail (black). Keratin-interaction partners are indicated by colored lines as follows: KRT1, KRT2/KRT10 (orange), KRT3/KRT12 (blue), KRT4/KRT13 (green), KRT5/KRT14 (pink), KRT6A/KRT16 (grey), KRT6B/KRT17 (brown), KRT8/KRT18 (black). The number of variants in a keratin domain, associated with a given disorder, is displayed. Type II keratin proteins are shown at left and are indicated by a blue line along the bottom of the figure. Type I keratin proteins are exhibited at right and denoted by a gold line along the bottom of the figure