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. Author manuscript; available in PMC: 2011 Jan 1.
Published in final edited form as: Dermatol Clin. 2010 Jan;28(1):43–54. doi: 10.1016/j.det.2009.10.005

Figure 7.

Figure 7

Demonstration of consequences of a leucine-to-proline substitution in the amino acid position 156 of the β4 integrin polypeptide in a patient with EB-PA. (A) Garnier α-helicity plot predicts that introduction of proline into position 156, in place of a leucine, disrupts the α-helix of the mutated polypeptide. (B) Comparison of β4 integrin sequences in different species as well as between different human integrin β-chains reveals conservation of the leucine at position 156. (Adapted from Pulkkinen L, Bruckner-Tuderman L, August C, et al. Compound heterozygosity for missense (L156P) and nonsense (R554X) mutations in the beta4 integrin gene (ITGB4) underlies mild, nonlethal phenotype of epidermolysis bullosa with pyloric atresia. Am J Pathol 1998;152:935-41., with permission.)