Fig. 5

COL7A1 somatic mutations resemble inherited germline mutations found in collagenopathies. A. Distribution of somatic variants in TCGA STAD is similar to the germline variants observed in DEB as determined by Kruskal-Wallis test. Mutations in the N-terminal domain often reduce COL7A1 expression in skin [52, 53]. B. Lollipop plot showing the distribution of variants on the COL7A1 protein domain map. A recurring truncation variant is found in the collagen domain in exon 73. Other variants only were observed once or twice, but have redundant impacts in each domain