†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.