Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 3151 N/A 894 28 %
missense mutations 1945 62 % 399 45 %
nonsense mutations 312 10 % 112 13 %
frame shift mutations 535 17 % 232 26 %
amino acid insertions/deletions 105 3 % 49 5 %
splice site mutations 131 4 % 42 5 %
one or more exons deleted 86 3 % 23 3 %
benign variants 37 1 % 37 4 %
Variants of unknown significance (VUS) 247
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
160 p.Gln472Argfs*83
57 p.Arg660Trp
55 p.Arg617His
54 p.Arg554His
51 p.Arg518Gln
46 p.Pro543Leu
43 p.Arg617Cys
42 p.Arg401Gln
40 p.Gly512Ser
40 p.Pro560Leu
38 p.Gly266Arg
36 p.Tyr174Cys
35 p.Glu609Lys

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 3151 ALD cases (January, 2021).

Exon amino acids N Percentage
exon 1a (1-100) 226 7%
exon 1b (75-188) 570 18%
exon 1c (177-300) 552 17%
exon 2 (301-361) 141 4%
exon 3 & 4 (361-465) 273 9%
exon 5 (465-496) 224 7%
exon 6 (497-545) 336 11%
exon 7 (545-594) 238 7%
exon 8 & 9 (594-664) 529 17%
exon 10 (664-745) 86 3%

Last modified | 2021-01-11