Arginine in the beginning of the 1A rod domain of the keratin 10 gene is the hot spot for the mutation in epidermolytic hyperkeratosis

A novel arginine substitution mutation in 1A domain and a novel 27 bp insertion mutation in 2B domain of keratin 12 gene associated with Meesmann's corneal dystrophy

“…4 22-25 In other keratin disorders, hot spot mutation sites containing arginine in the rod 1A region have been reported. [26][27][28][29] The proband of family B carries a novel duplication insertion of 27 nucleotides (1222ins27). This type of mutation is unique for a number of different reasons.…”

Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event

“…The type I and II keratin gene clusters have been localized to chromosomes 17q and 12q 11 . Although an arginine to histidine base substitution at position 10 in keratin 10's 1A segment of the rod domain is the most common mutation causing epidermolytic hyperkeratosis, many other point mutations have been identified 12–17 . Keratins are expressed as intermediate filament protein pairs in a tissue‐specific and differentiation‐specific fashion 18,19 .…”

Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

“…A heterozygous KRT10 missense mutation c.467G>A(p.Arg156His) was identified in the proband and her son, while not in normal controls (Figure 2F and G). The mutation hotspots of EHK are located at the conserved sequences in helix initiative and helix terminal motifs of K1 and K10 2. The mutation of the reported family, c.467G>A, just occurred at the hotspots.…”

“…So we cannot conclude that the more similar between two amino acid substitution in the same codon, the milder consequence will be brought. The p.Arg156His mutation is rather common in previous reports,2,4 but the clinical manifestations vary greatly. Other genetic or epigenetic factors that were not identified may influence disease severity.…”