Table 2.

Identified ABCD1 mutations: mutations of ABCD1 that result in amino acid substitutions or in-frame deletions

Patient number	Phenotype	Mutation of ABCD1	Effect of mutation of ABCD1	Position of mutation
13	CCALD	709C>T	S108L	Loop1
14	CCALD	709C>T	S108L	Loop1
15	CCALD	829A>G	N148S	TM2
16	CCALD	1026A>G	N214D	TM3
17	CCALD	1182G>A	G266R	Between TM4 and EAA-like
18	CCALD	1324T>Ca	L313P	Between EAA-like and TM5
19	CCALD	1938C>T	R518W	Walker A
20	CCALD	1939G>A	R518Q	Walker A
21	CCALD	2017A>G	Q544R	Between Walker A and Cons
22	CCALD	2017A>G	Q544R	Between Walker A and Cons
23	CCALD	2065C>T	P560L	Between Walker A and Cons
24	CCALD	2065C>T	P560L	Between Walker A and Cons
25	CCALD	Del. 2145–2156	Del. HILQ587-590	Between Walker A and Cons
26	AdultCer	Del. 1257–1259	Del.E291	EAA-like
27	AdultCer	2005T>C	F540S	Between Walker A and Cons
28	AdultCer	2358C>T	R660W	C-terminal to Walker B
29	AdultCer	2385C>A	H667N	C-terminal to Walker B
30	AMN-Cer	1146A>C	T254P	TM4
31	AMN	636C>T	P84S	TM1
32	AMN	709C>T	S108L	Loop1
33	AMN	1182G>A	G266R	Between TM4 and EAA-like
34	AMN	1197G>A	E271K	Between TM4 and EAA-like
35	AMN	1215G>Aa	G277R	Between TM4 and EAA-like
36	AMN	1255C>G	S290W	EAA-like
37	AMN	1581C>T	R401W	Between TM6 and Walker A
38	AMN	2233C>A	A616D	Cons
39	AMN	2385C>A	H667N	C-terminal to Walker B
40	Asymptomatic	2211G>A	E609K	Cons

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