Fig. 2

Verification of the germline mutation in Rab43 gene by Sanger sequencing and structural comparison of wild type Rab43 with the identified Rab43 mutant protein (a-d) The Sanger sequencing chromatograms of Rab43 gene from the proband, his parents and one sister were displayed by the ChromasPro software. The mutation site was indicated with a black arrow. The corresponding codon sequences and coding amino acids were placed under each chromatogram. Whereas the two alleles of Rab43 gene from his mother and sister are wild type, one allele of Rab43 gene from the proband and his father harbors the identified mutation. (e-f) Comparison of the predicted crystal structures between wild type Rab43 and Rab43 A158T mutant. The local structure surrounding residue 158 was displaced in the enlarged insets. Lines with Black arrows indicate the position of residue 158. The side chain of Alanine at 158 or Threonine at 158 was highlighted by red dots. The pictures were rendered with PyMOL (v.0.99rc6)