Mutations in hemidesmosomal components that affect protein-protein interactions

Protein (mutation)aProtein-protein interaction(s) affectedDiseasebReference
β4 (R1281W)Plectin ABDNonlethal PA-JEB64
β4 (R1225H)Plectin ABDNonlethal PA-JEB55
β4 (Q1714X)Plectin plakin domainLethal EBS55
β4 (Δ1450-1499)BP180?Nonlethal EBS35
BP180 (Δ18-407)β4, plectin, BP230Nonlethal EBS18
CD151 (Δ128-253)α6HN-PEB37
Plectin (Δ893-895)β4?MD-EBS65
  • a The canonical β4A subunit (89) and the plectin 1C variant (50) were taken as the basis for numbering the amino acids of β4 and plectin. In all cases, except where there is homozygosity for a single mutation (R1281W; Q1714X), there is a confounding effect by a second mutation in the gene, which determines whether the disease is lethal or not.

  • b PA-JEB, pyloric atresia associated with junctional epidermolysis bullosa; HN-PEB, hereditary nephritis associated with pretibial epidermolysis bullosa; MD-EBS, muscular dystrophy associated with epidermolysis bullosa simplex. In JEB the epidermis is separated from the dermis at the level of the basement membrane, whereas in EBS splitting occurs through the basal keratinocytes.