We compared our findings with those observed in all hitherto reported pathogenic human (n = 7) and canine (n = 1) SERPINH1 variants and in the Serpinh1 knock-out (Serpinh1-/-) mice (available data is summarized in Table 1 and missense variants are mapped to the HSP47 crystal structure in S11 Fig) and discuss their implications for type I procollagen biosynthesis and bone formation in the context of understanding the pathomechanisms underlying the observed OI phenotypes. The gene discussed is COL1A2; the disease is osteogenesis imperfecta.