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Identification of a Point Mutation Underlying FEPS
(A) Sequence chromatogram showing the TRPA1 mutation identified in the FEPS family. The arrow indicates the location of the mutation. Below is a selection of mammalian TRPA1 sequences showing that the mutation site region is evolutionarily conserved.
(B) Schematic representation of the TRPA1 channel. The substitution (S) identified in the FEPS family occurs in asparagine (N) 855 located in putative transmembrane segment S4.
