Mutation statistics

Statistics of ABCD1 mutations and variants

Non-recurrent Mutations
N % N %
All ALD mutations in database 2581 N/A 775 30 %
missense mutations 1562 61 % 351 45 %
nonsense mutations 256 10 % 99 13 %
frame shift mutations 444 17 % 184 24 %
amino acid insertions/deletions 97 4 % 47 6 %
splice site mutations 106 4 % 36 5 %
one or more exons deleted 81 3 % 23 3 %
benign variants 35 1 % 35 5 %
Variants of unknown significance (VUS) 227
Synonymous variants 102
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 ~23% of all mutations identified)

N Allele
137 p.Gln472Argfs*83
46 p.Arg617His
45 p.Arg518Gln
44 p.Arg554His
41 p.Arg660Trp
39 p.Pro560Leu
38 p.Arg401Gln
36 p.Pro543Leu
33 p.Gly266Arg
31 p.Tyr174Cys
30 p.Gly512Ser
30 p.Arg617Cys
29 p.Glu609Lys

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 2564 ALD mutations (October 31th, 2017).

Exon amino acids N Percentage
exon 1a (1-100) 189 7%
exon 1b (75-188) 476 18%
exon 1c (177-300) 452 17%
exon 2 (301-361) 113 4%
exon 3 & 4 (361-465) 216 8%
exon 5 (465-496) 188 7%
exon 6 (497-545) 278 11%
exon 7 (545-594) 198 8%
exon 8 & 9 (594-664) 432 17%
exon 10 (664-745) 52 2%

Last modified | 2017-12-04