Mutation statistics

Statistics of ABCD1 mutations and variants

All Mutations Non-recurrent Mutations
N % N %
All ALD mutations in database 2642 N/A 799 30 %
missense mutations 1607 61 % 369 46 %
nonsense mutations 258 10 % 100 13 %
frame shift mutations 450 17 % 188 24 %
amino acid insertions/deletions 100 4 % 47 6 %
splice site mutations 106 4 % 37 5 %
one or more exons deleted 83 3 % 23 3 %
benign variants 35 1 % 35 4 %
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 | 2017-12-15