Prom-Luc is renamed pGL4.10[luc2] plasmid (Promega, cat# E6651).
minP is renamed plasmid pGL4.23[luc/minP] plasmid (Promega, cat# E8411).
§Genomic coordinates are for the GRCh37/hg19 human genome assembly.
Coordinates of mutated base pairs in the NAGSintron 1.
#Coordinates of mutated base pairs in the NAGS-3kb enhancer.
Table 2. Conservation scores and predicted effects of sequence variants found in patients with NAGS deficiency.