New findings on SNP variants of human protein L-isoaspartyl methyltransferase that affect catalytic activity, thermal stability, and aggregation.

Discussion Four new SNPs with functional deficits In our previous study of 13 rare missense SNP variants of human PIMT, we called attention to four: R36C with less than 1% activity in our standard assay, G175R and F72L with activity losses of 65% and 30% respectively, and R17H with highly significant thermal instability.

also in 132,142 other papers