Fig. 2

TXNDC15 is a novel gene that causes Meckel-Gruber syndrome. a Pedigree of the three families showing the consanguineous nature of the parents. The index is indicated in each pedigree by a black arrow. b Upper panel: sequence chromatogram for the three homozygous mutant alleles in TXNDC15 and their locations indicated in a schematic of TXNDC15. Lower panel: schematic of the TXNDC15 protein and the location of the mutations in each specific domain. c Multisequence alignment of the deleted five amino acid residues (p. (Ser225_His229del)) showing high conservation of this part of amino acids down to Taeniopygia guttata (boxed in red)