Fig. 2

Mutation spectrum of the FLCN gene responsible for BHD syndrome. Top of this figure: mutations identified in this study; Bottom of this figure: mutations identified in other studies as reviewed in Schmidt et al. [11], Furuya et al. [14], Zhang et al. [24], Rossing et al. [25]. Definitions of abbreviations: FS = frameshift; MS = missense; NS = nonsense; AAΔ, amino acid deletion inframe; pMet1? = proposed deletion of initiator codon; SS = splice site. ATG = initiator codon. CpG = putative promoter region. △E8 = whole exon 8 loss. Blue bar, intragenic deletion; Brown bar, intragenic duplication