Plasmid Name Plasmid Backbone Inserted NAGS sequence Genomic coordinates of the inserted NAGS sequence§
Prom-Luc pGL4.10[luc2] NAGS promoter chr17:42,081,288-42,082,038
Prom-Ex1-Luc pGL4.10[luc2] NAGS promoter, exon 1 coding sequence chr17:42,081,288-42,082,457
Prom-Ex1-Int1-Luc pGL4.10[luc2] NAGS promoter, exon 1 coding sequence, intron 1 chr17:42,081,288-42,083,010
c.426+326G>A
Prom-Ex1-Int1-Luc
NAGS promoter, exon 1 coding sequence, mutated intron 1
chr17:42,081,288-42,083,010 chr17:42,082,783G>A
c.427-218A>C
Prom-Ex1-Int1-Luc
NAGS promoter, exon 1 coding sequence and mutated intron 1
chr17:42,081,288-42,083,010 chr17:42,082,787A>C
minP pGL4.23[luc2/minP] None None
minP_E pGL4.23[luc2/minP] NAGS -3kb enhancer chr17:42,078,635-42,079,129
c.-3098C>T
minP_E
Mutated NAGS -3kb enhancer
chr17:42,078,635-42,079,129 chr:42,078,934C>T#
c.-3065A>T
minP_E
Mutated NAGS -3kb enhancer
chr17:42,078,635-42,079,129 chr:42,078,967A>T#