Jos Jansen

2 39 CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Figure 1. Pedigrees and overview of the structure, variants and conservation of CCDC115 . (A) The pedigrees of families 1 to 5 are shown. Partial chromatograms show autosomal recessive segregation for all families except family 4 where no parental DNA was available. The red asterisk indicate respective nucleotide changes. (B) Schematic representation of the intron-exon structure of CCDC115 and the encoded protein. The red lines indicate the mutations within the families. The green regions indicate two predicted coiled-coil regions (CC1 and CC2).