Variant statistics

Statistics of ABCD1 variants

All variants/cases

pathogenic likely pathogenic VUS likely benign benign sum
missense variants 2104 184 281 67 71 2707
nonsense variants 375 375
frame shift variants 629 1 630
amino acid insertions/deletions 121 14 1 136
splice site variants 134 20 2 1 2 159
one or more exons deleted 97 97
no translation initiation 58 3 61
benign variants in 5’UTR, IVS or 3’UTR regions 12 12
total 3518 222 284 68 85 4177

Unique variants/cases

pathogenic likely pathogenic VUS likely benign benign sum
missense variants 240 153 125 63 66 647
nonsense variants 131 131
frame shift variants 291 1 292
amino acid insertions/deletions 41 14 1 56
splice site variants 29 19 2 1 2 53
one or more exons deleted 25 25
no translation initiation 8 3 11
benign variants in 5’UTR, IVS or 3’UTR regions 12 12
total 765 190 128 64 80 1227

 

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
185 p.Gln472Argfs*83
72 p.Arg554His
71 p.Arg617His
70 p.Arg660Trp
60 p.Arg518Gln
53 p.Pro543Leu
50 p.Arg617Cys
49 p.Gly512Ser
48 p.Arg401Gln
46 p.Gly266Arg
45 p.Pro560Leu
45 p.Glu609Lys
43 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 | 2024-07-06