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. 2020 Oct 30;10(11):2002. doi: 10.3390/ani10112002

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© 2020 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).

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cEDS-associated COL5A2 missense variant in Holstein cattle. (a) COL5A2 gene structure showing the variant location on chromosome 2, exon 35 (red arrow). (b) Electropherograms of the calf, dam, sire, and maternal-grandmother. (c) Integrative Genomics Viewer (IGV) screenshot presenting the g.7331916G>T variant in the affected calf. (d) Pedigree of the cEDS-affected Holstein family. Males are represented by squares and females by circles. Affected animals are represented with full black symbols, while non-affected animals are represented by full white symbols. Unknown genotypes are represented by symbols with a diagonal line. COL5A2 genotypes are shown for all available animals. (e) Schematic representation of COL5A2 protein and its three functional domains. (f) Multiple sequence alignment of the collagen alpha-2(V) chain of the COL5A2 protein encompassing the region of the p.Gly789Val variant demonstrates complete evolutionary conservation across species.