Table 4

New polymorphisms of NPC1 gene

Nucleotide location Influence on amino acids
Exon 1A-22CSilent
Exon 8aG1014TSilent
Intron 12IVS12+8∼+10GGG delSilent
Exon 18T2618CMissense transition (V873A)
Exon 18C2775TSilent
Exon 21C3159TSilent