Protein variations induced by specific RDDs and frame-shifts on cDNA of CSP RNAs.

RNA and protein variants are named following the nomenclature recommendations from Den Dunnen and Antonarakis [53]. “r” indicates that the base change occurs at the RNA level. “r.68c>a” denotes that at nucleotide 68 a C is mutated to an A. “r.115_116at<” denotes that at nucleotide 115 and 116 an A and a T are deleted. “r.181-192ga<” denotes that between nucleotide 181 (a G) and 192 (an A) all nucleotides are deleted. “p” is for protein. “pmutLys96*” denotes that amino acid Lysine-96 is changed to a stop codon (*). “fsPro90*e” denotes a frame shifting change with Proline-90 as the first affected amino acid and creation of an early stop codon (*e). “fsHis87*l” denotes a frame shifting change with Histidine-87 as the first affected amino acid and creation of a late stop codon (*l). “deleAsp45-Pro48” means that amino acids Asparagine-45 to Proline-48 are deleted following mutation on Asparagine 45. Pmut: Point mutation, fs: frame-shift,
†: Signal peptide. RDDs such as r.115_116at<, r.202g>t, r.72t>g, r.215t<, r.164a, r.68c>a, r.213g< and r.184_186ct< are probably short aborted transcripts processed by the cell and deleted.