From report to report the APOB relevant to this analysis has many synonyms. What concerns us here is that the Regeneron-associated authors’ p.Arg3558Cys is used by other authors as Arg3531Cys and R3531C.
Below, sources for synonymous usage, presented in their own text:
- Clinvar: R3531C = ARG3558CYS https://www.ncbi.nlm.nih.gov/clinvar/RCV000219069/
- SNPedia: rs12713559, also known as c.10672C>T, p.Arg3558Cys, R3558C and R3531C, is a SNP in the APOB apolipoprotein B gene. The risk allele is A according to 23andMe, which tests for this SNP in regard to familial hypercholesterolemia type B, and where they note that the evidence is unclear about whether this mutation is causative on its own. In SNPedia, where we use the orientation as defined by dbSNP, the risk allele is rs12713559(T). https://www.snpedia.com/index.php/Rs12713559
- Labnet: p.Arg3558Cys, also known as R3531C http://www.labnet.health.nz/testmanager/index.php?fuseaction=main.DisplayTest&testid=397
Below, in the very text where Arg3531Cys is used, the referenced material uses R3531C.