Fig. 3

The structure of GRHPR gene and protein and sequences with mutation c.454dup. a Sequences show a control samples without mutation and a duplication of nucleotide A in homozygous (patient) and heterozygous state, which changes the followed amino acids from origin threonine to asparagine. The last two sequences are the parents of the patient. b Arrow shows the localization of this mutation in gene GRHPR (in exon 5) and diagram shows a predicted shorted protein. Boxes indicate exons and lines indicate introns. The coenzyme-binding domain (CBD) is indicated by a red box and two the formate/glycerate dehydrogenase substrate-binding domain (SBD) are indicated by blue boxes. The grey box indicates the length of additional amino acids that is appended as a result of the frame-shifting mutations