Jos Jansen

3 69 TMEM199 Deficiency is characterized by elevated liverenzymes, hypercholesterolemia and abnormal glycosylation Figure 1. TMEM199 Domain Structure, Genetic Variants, and Conservation Schematic representation of the intron-exon structure of TMEM199 and the encoded protein. The mutations and substitutions within the different families are indicated by red lines. The yellow region indicates the conserved Vma12 domain ([Pfam: PF11712] amino acids 78–203). The two predicted transmembrane regions (Tm1 and Tm2) are indicated by a blue box.