Sentence examples for variants were labeled from inspiring English sources
Single nucleotide changes in splice acceptor/splice donor side and nonsense variants were labeled as LoF and analyzed with the help of LOFTEE (see Additional file 1: Table S3).
Base variants were labeled from the ATG start of protein translation (NM_013247.4).
The resulting MSCs expressing the sTRAIL variants were labeled MSC.sTRAILDR4 and MSC.sTRAILDR5, respectively.
Single-Cys variants were labeled with the donor Alexa Fluor 488 maleimide (AF488) (Invitrogen) or the acceptor Texas Red maleimide (TR) (Invitrogen) according to the manufacturer's instructions.
Ffh(E153C) and L29(Q38C) single cysteine variants were labeled with Cy5 and Cy3B, respectively as described previously (Noriega et al., 2014).
These were called with the GATK software and variants were labelled according to the quality control scores provided in the tool.
The cysteine residues of V122I TTR, C10A/V122I/E127C TTR and C10A/V122I/P125C TTR variants were labelled with Oregon Green 488 maleimide O-60344, Molecular Probes) using thiol chemistry.
ITS variants were labelled with a species name acronym and an Arabic capital letter (e.g., Mka A for M. kansasii ITS sequevar variant A). 16S rDNA sequevars were designated with Roman numerals (e.g., M. chelonae sqv. I for M. chelonae 5'-16S rDNA variant I).
The important residues on QW9 and the variants are labeled in red.
The common domain shared by both AChE variants was labeled with goat anti-human AChE (Santa Cruz, CA, USA, antibody N19).
It is noteworthy that 104 (83%) of the PGx variants are labeled as polymorphism in UniProt, suggesting that an annotation of Polymorphism does not necessarily mean not pharmacogenetic.
