Table 1.

Identified ABCD1 mutations: mutations of ABCD1 that result in devastating effects (frame shifts or nonsense mutations) on adrenoleukodystrophy protein (ALDP)

Patient number	Phenotype	Mutation of ABCD1	Effect of mutation of ABCD1
1	CCALD	488C>AT	Frameshift at P34
2	CCALD	2171G>A	W595X
3	CCALD	5′UTR-Ex2 1.4-kb deletiona	Disruption of gene structure
4	AdultCer	Del. 986Ca	Frameshift at D200
5	AdultCer	Del. 1801–1802AGa	Frameshift at Q472
6	AMN-Cer	Del. 2251 GGTG ins. TGTTCTa	Frameshift at R622
7	AMN	Ins. 1237Ta	Frameshift at Y281
8	AMN	Del. 1801–1802AGa	Frameshift at Q472
9	AMN	2171G>A	W595X
10	AMN	Del. 2251 GGTG ins. TGTTCTa	Frameshift at R622
11	Unknown	Del. 1541Ca	Frameshift at F385
12	Unknown	Ex8-10 0.3-kb deletiona	Disruption of gene structure

Amino acid residue numbers in ALDP are based on Mosser et al. [1]. The domains and motifs in the ALDP are based on Mosser et al. [1]

CCALD childhood cerebral ALD, AdultCer adult with cerebral ALD, AMN-Cer AMN with cerebral ALD, AMN adrenomyeloneuropathy, TM transmembrane domain, Loop 1 loop 1 motif, EAA-like EAA-like protein motif, Walker A Walker A motif, Cons nucleotide binding fold conserved sequence, Walker B Walker B motif

^aNovel mutation