In the words of Charlier et al. (2008): "a missense mutation in exon 39 (A5804G) resulting in an H1935R substitution in the fourth extracellular loop". The His (normal) form of the peptide is conserved in all vertebrates sequenced to date. (FN 080330) Whole-genome sequencing of the affected Shorthorn calf described by O'Rourke et al. (2017), and subsequent checking for deleterious variants in functional candidate genes, enabled Woolley et al. (2019) to identify "a likely causal missense variant on chromosome 2 in the ABCA12 gene (NM_001191294.2:c.6776T>C)". The authors also reported that "Sanger sequencing of the affected calf and the dam confirmed the variant was homozygous in the affected calf and heterozygous in the dam." Eager et al. (2020): "Sanger sequencing of all 53 exons" of the functional candidate gene ABCA12 in an affected still-born Poll Hereford led to the discovery of a likely causal variant, namely a "novel mutation found in exon 34, which was an insertion of a cytosine at position BTA 2:103043495–103043496 or ENSBTAT00000004518.6:c.5689‐5690insC . . . . The frameshift is predicted to result in a premature stop codon at residue 1816, truncating the protein by 781 amino acids – ENSBTAP00000004518.6:p.(Ser1784Ilefs*33)".
