Variant statistics

Statistics of ABCD1 variants

All variants/cases

pathogenic likely pathogenic VUS likely benign benign sum %
missense variants 2092 177 278 60 82 2689 64,6%
nonsense variants 377 377 9,1%
frame shift variants 637 1 638 15,3%
amino acid insertions/deletions 114 19 1 134 3,2%
splice site variants 133 21 2 3 159 3,9%
one or more exons deleted 97 97 2,3%
no translation initiation 55 3 1 59 1,4%
benign variants in 5’UTR, IVS or 3’UTR regions 10 10 0,2%
total 4163

Unique variants/cases

pathogenic likely pathogenic VUS likely benign benign sum %
missense variants 247 143 125 52 77 644 52,8%
nonsense variants 131 131 10,7%
frame shift variants 289 1 290 23,8%
amino acid insertions/deletions 40 14 1 55 4,5%
splice site variants 28 19 2 4 53 4,3%
one or more exons deleted 25 25 2,1%
no translation initiation 8 3 1 12 1,0%
benign variants in 5’UTR, IVS or 3’UTR regions 10 10 0,8%
total 1220

 

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 pathogenic variants affect the stability of ALDP
79 % of all unique ABCD1 pathogenic variants affect the stability of ALDP

Most frequently identified pathogenic variants (together accounting for 20% of all variants identified)

N Allele
193 p.Gln472Argfs*83
71 p.Arg554His
70 p.Arg617His
68 p.Arg660Trp
59 p.Arg518Gln
51 p.Pro543Leu
50 p.Arg617Cys
49 p.Gly512Ser
47 p.Arg401Gln
45 p.Gly266Arg
45 p.Pro560Leu
43 p.Glu609Lys
41 p.Tyr174Cys

Incidence of variants in each genomic amplicon Boehm et al. Based on the analysis of 4226 ABCD1 variants (August, 2023).

Exon amino acids N Percentage
exon 1a (1-100) 305 7%
exon 1b (75-188) 722 17%
exon 1c (177-300) 785 19%
exon 2 (301-361) 200 5%
exon 3 & 4 (361-465) 415 10%
exon 5 (465-496) 279 7%
exon 6 (497-545) 416 10%
exon 7 (545-594) 312 7%
exon 8 & 9 (594-664) 637 15%
exon 10 (664-745) 149 4%

Last modified | 2024-02-05