Fig. 2
From: Novel GANAB variants associated with polycystic liver disease
Identification of GANAB variants and in silico prediction of effect of variants on GIIα structure. a GANAB is located on chromosome 13q12.3 and consists of 25 exons. The identified variants are located on exons 7, 16, 22, and 23. b Sequence electropherograms show heterozygous germline mutations c Predicted structure with p.Asp229Glufs*60 (c.687delT) variant resulting in early termination of the protein by introducing a premature stop codon. d p.Arg612Pro (c.1835G>C) variant results in amino acid change close to the active site of the protein. Affected amino acid is depicted in color. The inlay shows a magnification of the structural change of the amino acid. e Predicted structure with c.2509C>T (p.Arg837*) variant results in untranscribed distal C-terminal domain f Predicted structure with c.2656C>T (p.Arg886*) variant results in untranscribed distal C-terminal domain. c, e, f Preserved protein is depicted in color, loss of protein structure in grey