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. 2021 Feb 20;11(2):561. doi: 10.3390/ani11020561

Figure 3.

Figure 3

COL1A1 missense variant in an OI type II-affected Holstein calf. (a) COL1A1 gene structure showing the variant location on chromosome 19, exon 49 (red arrow); (b) Electropherograms showing the heterozygous genotype of the calf, and the absence of the variant in its dam genome and in the germline of its sire. (c) IGV screenshot presenting the Chr19: g.36473359T>A variant in the affected calf. (d) Multiple sequence alignment of the collagen alpha-1(I) chain of the COL1A1 protein encompassing the region of the p.Val1306Glu variant demonstrates complete evolutionary conservation across species. (e) Schematic representation of COL1A1 protein and its three functional domains.