Mutation statistics

September 15th, 2017 |

Statistics of ABCD1 mutations and variants

All mutations
Non-recurrent
N % N %
All ALD mutations in database 2552 N/A 759 30 %
missense mutations 1554 61 % 346 46 %
nonsense mutations 253 10 % 98 13 %
frame shift mutations 442 17 % 183 24 %
amino acid insertions/deletions 90 4 % 46 6 %
splice site mutations 106 4 % 36 5 %
one or more exons deleted 80 3 % 23 3 %
benign variants 27 1 % 27 4 %
Variants of unknown significance (VUS) 152
Synonymous variants 103
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 2455 ALD mutations (JuneĀ 19th, 2017).

Exon amino acids N Percentage
exon 1a (1-100) 200 7%
exon 1b (75-188) 508 19%
exon 1c (177-300) 474 17%
exon 2 (301-361) 127 5%
exon 3 & 4 (361-465) 257 9%
exon 5 (465-496) 194 7%
exon 6 (497-545) 282 10%
exon 7 (545-594) 203 7%
exon 8 & 9 (594-664) 431 16%
exon 10 (664-745) 61 2%

afbeelding van de Engelse vlag English    afbeelding van de Nederlandse vlag Nederlands    afbeelding van de Franse vlag Français   afbeelding van de Spaanse vlag Español   afbeelding van de Duitse vlag Deutsch