Table 1.

COL3A1 mutations in vEDS. The data presented for the different types of mutations is based largely on [10], [37].

Mutation type	Prevalence	Effect on protein	Age at diagnosis	Genotype-phenotype
Glycine mutations	65%	Collagen III structural abnormality	∼34 years	Severity is increased with substitution of glycine with larger charged amino acids. Most severe phenotype after splice site mutation
In frame splice site mutations	25%	Collagen III structural abnormality	∼25 years	Most severe phenotype and lowest median age of survival
Null mutations	5%	∼50% Reduction of collagen III	∼46 years	Mild phenotype and high median age of survival
Other missense mutations (insertions, deletions, C- and N-terminal mutations etc.)	5%	Collagen III structural abnormality	∼45 years	Mild phenotype and high median age of survival