Table 4
New polymorphisms of NPC1 gene
Nucleotide location
Influence on amino acids
Exon 1
A-22C
Silent
Exon 8a
G1014T
Silent
Intron 12
IVS12+8∼+10GGG del
Silent
Exon 18
T2618C
Missense transition (V873A)
Exon 18
C2775T
Silent
Exon 21
C3159T
Silent