Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 2901 N/A 852 29 %
missense mutations 1790 62 % 393 46 %
nonsense mutations 287 10 % 109 13 %
frame shift mutations 475 16 % 202 24 %
amino acid insertions/deletions 104 4 % 49 6 %
splice site mutations 124 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
50 p.Arg617His
48 p.Arg518Gln
43 p.Pro543Leu
38 p.Gly266Arg
38 p.Arg401Gln
38 p.Arg617Cys
37 p.Pro560Leu
37 p.Gly512Ser
33 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 | 2020-06-11