Fig. 5
From: A case report of SPG11 mutations in a Chinese ARHSP-TCC family
Bioinformatic prediction of the SPG11 protein structure in the presence of the found mutations. Boxes in blue indicate the exons of the SPG11 major transcripts (NM_025137 and NM_001160227). The location of the mutations described in this study are located in exon 7 (c.1551_1552delTT) and upstream of exon 31 (c.5867-1G > T (IVS30-1G > T)). Boxes in grey indicate the predicated protein truncations (middle and lower) as compared with a full-length wild-type structure (upper)