Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 2657 N/A 804 30 %
missense mutations 1614 61 % 372 46 %
nonsense mutations 263 10 % 102 13 %
frame shift mutations 451 17 % 189 24 %
amino acid insertions/deletions 100 4 % 47 6 %
splice site mutations 113 4 % 38 5 %
one or more exons deleted 83 3 % 23 3 %
benign variants 33 1 % 33 4 %
Variants of unknown significance (VUS) 250
Synonymous variants 118
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 result in absence of ALDP
79 % of all non-recurrent ABCD1 mutations result in absence 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
43 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 | 2018-07-20