Molecular and biologic data of the C70R mutation. (A) Electrophoretograms of the HEPC genomic sequence spanning the C70R mutation. The sequence is shown for DNA of a wild-type subject (WT), proband (P), and the heterozygous mother (M). ^*indicates the mutation. (B) Restriction analysis of C70R mutation by SacII in the proband family. MWM indicates molecular weight marker; F, father; M, mother; P, proband; S1 and S2, siblings; and U, undigested fragment. (C) Comparison of wild-type and mutated peptide amino acid sequence. The 8 cysteines are indicated in green, the mutated arginine in red. (D) Three-dimensional structure of HEPC 25 and 20 amino acid peptides (from http://www.ncbi.nlm.nih.gov/). The mutated cysteine is indicated in yellow; a white bracket marks the S-S bond disrupted by the mutation.