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Fig. 6 | Acta Veterinaria Scandinavica

Fig. 6

From: A large deletion in the COL2A1 gene expands the spectrum of pathogenic variants causing bulldog calf syndrome in cattle

Fig. 6

Schematic diagram of the COL2A1 protein. a Domain and region information for the α1 chain of type II collagen (COL2A1) obtained from the UniProt database (http://www.uniprot.org/; accession number: P02459). Note that the large deletion (red arrow) affects the triple-helical region. b Multiple species alignment of the COL2A1 proteins across 9 different species showing a complete conservation of the affected residue. Note the pathogenic exchange of glycine residues of the Gly-x-y structural motif which is typical of triple-helical regions from collagen proteins reported in BDs-affected cases: p.Gly600Asp in Charolais Salers crossbreed calves, p.Gly720Ser in an isolated German Holstein calf [5], p.Gly960Arg in French Holstein calves [13], p.Gly996Ser in German Holstein calves [6] and p.Gly1056Ser in an isolated BD Holstein calf [14]. Protein sequences accession numbers in NCBI for each species are NP_001001135.2 (Bos taurus), NP_001835.3 (Homo sapiens), XP_509026.2 (Pan troglodytes), NP_112440.2 (Mus musculus), NP_001006952.1 (Canis familiaris), NP_037061.1 (Rattus norvegicus), NP_989757.1 (Gallus gallus), NP_571367.1 (Danio rerio) and NP_989220.1 (Xenopus tropicalis)

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