Department of Dermatology, St George Hospital, Sydney, New South Wales, Australia.
J Invest Dermatol. 2011 Sep;131(9):1787-90. doi: 10.1038/jid.2011.206.
Mutations that change the same amino acid can result in different clinical phenotypes. Through in silico modeling and keratin filament assessment of genetically engineered HaCaT cells, Natsuga et al., as reported in this issue, have demonstrated how changes in charge and structure of a replacement amino acid in keratin 14 can cause disease (KRT14pA413P, EB simplex) or no clinical effect (KRT14pA413T, polymorphism).
突变改变相同的氨基酸可能导致不同的临床表型。在本期杂志中，Natsuga 等人通过对基因工程 HaCaT 细胞进行计算机建模和角蛋白丝评估，展示了角蛋白 14 中替换氨基酸的电荷和结构变化如何导致疾病（KRT14pA413P，EB 单纯型）或无临床效应（KRT14pA413T，多态性）。
