Fig. 1: Schematic visualisation of 47 unique COL3A1 (likely) pathogenic variants in 51 unrelated individuals. | European Journal of Human Genetics

Fig. 1: Schematic visualisation of 47 unique COL3A1 (likely) pathogenic variants in 51 unrelated individuals.

From: Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood

Fig. 1

Boxes represent COL3A1 exons, colour coded to define protein domains (N- and C-termini light blue; triple helix domain dark blue; transitional domains purple). Confirmed de novo variants are shown in bold. *de novo variant in 1/3 observed cases. **de novo variant in 2/2 observed cases. †denotes variants present in more than one unrelated individual. ‡ n = 2 deletions in unrelated cases: NC_000002.11:g.(?_187315204)_(192885646_?)del and NC_000002.11:g.(?_189828672)_(189931701_?)del.

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