Figure 5. Damaging CLDN14 mutations in VOGM.
(A) Representative images from digital subtraction angiographies and magnetic resonance angiography demonstrating VOGMs of the probands.
(B) Pedigree structures indicating genotypes and phenotypes as described in Figure 2.
(C) Linear representation of Claudin-14 functional domains (dark rectangles) with location of VOGM mutations (in red). Conservation of the wild-type amino acid is shown. TM = Transmembrane domain; C = cytoplasmic loop; E = extracellular loop.