ClinVar

The numbering of this KRT9 mutation (L168S) is based on the numbering system used by Lu et al. (2003). Early reports designated this mutation LEU167SER. The mutation has also been referred to as L15S.

Rothnagel et al. (1995) searched for mutations in the KRT9 gene in 6 unrelated patients with epidermolytic palmoplantar keratoderma (144200). In 2 of these, they found mutations that altered critical residues within the highly conserved helix initiation motif at the beginning of the rod domain of keratin 9. In a 3-generation Middle Eastern kindred, they found a C-to-T transition at codon 162 that resulted in an arginine to tryptophan substitution at position 10 of the 1A alpha-helical domain, thus confirming this codon as a hotspot for mutation in keratin 9 (see 607606.0001). The other mutation they found involved a T-to-C transition at codon 167 that resulted in the expression of a serine residue in place of the normal leucine at position 15 of the 1A segment.