Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 2875 N/A 849 30 %
missense mutations 1779 62 % 393 46 %
nonsense mutations 283 10 % 108 13 %
frame shift mutations 469 16 % 200 24 %
amino acid insertions/deletions 103 4 % 49 6 %
splice site mutations 120 4 % 40 5 %
one or more exons deleted 85 3 % 23 3 %
benign variants 36 1 % 36 4 %
Variants of unknown significance (VUS) 248
Synonymous variants 120
76 % of all ABCD1 point mutations are transitions (T>C, C>T, G>A, A>G)
24 % of all ABCD1 point mutations are transversions (T>A or G, C>G or A, G>C or T, A>T or C)
76 % of all ABCD1 mutations affect the stability of ALDP
79 % of all non-recurrent ABCD1 mutations affect the stability of ALDP

Most frequently identified mutations (together accounting for 22% of all mutations identified)

N Allele
145 p.Gln472Argfs*83
52 p.Arg660Trp
50 p.Arg554His
48 p.Arg518Gln
48 p.Arg617His
43 p.Pro543Leu
38 p.Arg401Gln
38 p.Gly266Arg
37 p.Pro560Leu
37 p.Arg617Cys
36 p.Gly512Ser
32 p.Tyr174Cys
32 p.Glu609Lys

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 2855 ALD cases (January, 2020).

Exon amino acids N Percentage
exon 1a (1-100) 218 7%
exon 1b (75-188) 528 18%
exon 1c (177-300) 517 18%
exon 2 (301-361) 132 5%
exon 3 & 4 (361-465) 243 8%
exon 5 (465-496) 204 7%
exon 6 (497-545) 316 11%
exon 7 (545-594) 215 7%
exon 8 & 9 (594-664) 474 16%
exon 10 (664-745) 76 3%

Last modified | 2020-03-09