Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 2707 N/A 812 30 %
missense mutations 1657 61 % 374 46 %
nonsense mutations 263 10 % 102 13 %
frame shift mutations 453 17 % 191 23 %
amino acid insertions/deletions 100 4 % 47 6 %
splice site mutations 114 4 % 39 5 %
one or more exons deleted 83 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
139 p.Gln472Argfs*83
47 p.Arg518Gln
47 p.Arg554His
46 p.Arg617His
46 p.Arg660Trp
39 p.Pro560Leu
38 p.Arg401Gln
36 p.Pro543Leu
33 p.Gly266Arg
32 p.Gly512Ser
31 p.Tyr174Cys
30 p.Arg617Cys
29 p.Glu609Lys

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 2645 ALD mutations (July 20, 2018).

Exon amino acids N Percentage
exon 1a (1-100) 193 7%
exon 1b (75-188) 486 18%
exon 1c (177-300) 463 18%
exon 2 (301-361) 114 4%
exon 3 & 4 (361-465) 217 8%
exon 5 (465-496) 190 7%
exon 6 (497-545) 284 11%
exon 7 (545-594) 203 8%
exon 8 & 9 (594-664) 438 17%
exon 10 (664-745) 57 2%

Last modified | 2019-04-03