Fig. 7
From: Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists
Patients’ cohort genotype. MMACHC gene structure and coding pathogenic variants reported in association with adult-onset CblC disease. The non-truncating variants are shown in the upper part of the figure, while the truncating ones are showed in the lower part. The three splicing variants c.81 + 1G > A, c.82-1G > A and c.82-12_82-9delTTTC are not represented in the figure, but they all mapped into the intron 1 of the gene. The size of character of the variants is proportional to the frequency of their occurrence in the cohort. Known protein domains are indicated in light blue. The two new variants found in our patients are highlighted by arrows