Jos Jansen

2 59 CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Table S3 . In silico predictions for CCDC115 mutations Affected individuals F1-II1, F1-II2, F1-II4, F2-II1, F3-II2, F5-II1 F4-II1, F4-II2 F5-II1 Mutation c.[92T > C] c.[31G > T] c.[(?_-258)_(*1245_?)del] Protein change p.Leu31Ser p.Asp11Tyr p.0? PhyloP 2.22 2.47 NA SIFT Not tolerated Not tolerated NA PolyPhen 2.0 Probably damaging (score 0.999) Probably damaging (score 1.000) NA Mutation taster Disease causing Disease causing NA Grantham distance 145 160 NA Abbreviations: NA, not applicable