Mutations in K3 and K12 (current to October 1999)
| Amino acid substitution | Nucleotide substitution | Keratin and domain | Amino acid change | Reference |
| E509K | 1525G→A | K3 (HTM) | Acidic → basic | Irvineet al 4 |
| I426V | 1300A→G | K12 (HTM) | Neutral (apolar) → neutral (apolar) | Coleman et al 23 |
| Y429D | 4064T→G | K12 (HTM) | Neutral (polar) → acidic | Nishida et al 5 |
| M129T | 410T→C | K12 (HIM) | Neutral (apolar) → neutral (polar) | Corden et al 24 |
| Q130P | 413A→C | K12 (HIM) | Neutral (polar) → neutral (apolar) | This report |
| R135T | 428G→C | K12 (HIM) | Basic → neutral (polar) | Irvine et al 4; Corden et al 24 |
| R135G | 427A→G | K12 (HIM) | Basic → neutral (polar) | Nishida et al 5 |
| R135I | 428G→T | K12 (HIM) | Basic → neutral (apolar) | Nishida et al 5 |
| L140R | 443T→G | K12 (HIM) | Neutral (apolar) → basic | Nishida et al 5 |
| V143L | 451G→C | K12 (HIM) | Neutral (apolar) → neutral (apolar) | Irvine et al 4 |