Table 3.

Summary of identified single nucleotide polymorphism (SNPs) of ABCD2, ABCD3, and ABCD4 in 40 adrenoleukodystrophy patients: novel SNPs

Gene	Name	Fragment	Position (UCSC hg18)	Base call	Category	Amino acid change
ABCD2	Novel SNP1	Exon1	38299954	A/T	5′ untranslated region
	Novel SNP2	Exon1	38299659	G/C	Coding nonsynonymous	A9G
ABCD3	Novel SNP3	Exon4	94706096	A/G	Coding nonsynonymous	M94V
	Novel SNP4	Exon14	94727816	T/G	Intron
	Novel SNP5a	Exon15	94728352	G/C	Intron
ABCD4	Novel SNP6	5′UTR	73840784	T/C	Upstream at the transcription start site
	Novel SNP7	5′UTR	73839945	T/C	Upstream at the transcription start site
	Novel SNP8	5′UTR	73839604	G/A	Upstream at the transcription start site
	Novel SNP9b	Exon12	73826720	A/G	Intron
	Novel SNP10	Exon18	73823320	A/G	Intron
	Novel SNP11a	Exon18	73823116	T/C	Intron

A total of 24 SNPs of ABCD2, ABCD3, and ABCD4 were identified in 40 ALD patients. Among them, 11 SNPs (45.8%) were novel SNPs. The positions of these novel SNPs were based on the UCSC genome browser hg18

^aThese SNPs were identified only in the cerebral form (childhood cerebral ALD and adult with cerebral ALD)

^bThese SNPs were identified only in the AMN form