Variant statistics
Statistics of ABCD1 variants
All variants/cases
| pathogenic | likely pathogenic | VUS | likely benign | benign | sum | |
| missense variants | 2220 | 206 | 247 | 64 | 82 | 2808 |
| nonsense variants | 381 | – | – | – | – | 381 |
| frame shift variants | 643 | 1 | – | – | – | 643 |
| amino acid insertions/deletions | 125 | 14 | 1 | – | – | 140 |
| splice site variants | 144 | 20 | 2 | 1 | 2 | 161 |
| one or more exons deleted | 101 | – | – | – | – | 99 |
| no translation initiation | 58 | 3 | – | – | – | 61 |
| benign variants in 5’UTR, IVS or 3’UTR regions | – | – | – | – | 12 | 12 |
| total | 3672 | 244 | 250 | 65 | 96 | 4327 |
Unique variants/cases
| pathogenic | likely pathogenic | VUS | likely benign | benign | sum | |
| missense variants | 256 | 160 | 120 | 60 | 72 | 668 |
| nonsense variants | 131 | – | – | – | – | 131 |
| frame shift variants | 294 | 1 | – | – | – | 295 |
| amino acid insertions/deletions | 42 | 14 | 1 | – | – | 57 |
| splice site variants | 30 | 19 | 2 | 1 | 2 | 54 |
| 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 | 786 | 197 | 123 | 61 | 85 | 1253 |
| 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 19% of all variants identified)
| N | Allele |
|---|---|
| 193 | p.Gln472Argfs*83 |
| 73 | p.Arg554His |
| 73 | p.Arg617His |
| 70 | p.Arg660Trp |
| 64 | p.Arg518Gln |
| 54 | p.Pro543Leu |
| 52 | p.Glu609Lys |
| 52 | p.Arg401Gln |
| 51 | p.Gly266Arg |
| 51 | p.Pro560Leu |
| 51 | p.Arg617Cys |
| 50 | p.Gly512Ser |
| 46 | p.Tyr174Cys |
Incidence of variants in each genomic amplicon Boehm et al. Based on the analysis of 4224 ABCD1 variants (August, 2023).
| Exon | amino acids | N | Percentage |
|---|---|---|---|
| exon 1a | (1-100) | 324 | 7% |
| exon 1b | (75-188) | 661 | 16% |
| exon 1c | (177-300) | 639 | 16% |
| exon 2 | (301-361) | 213 | 5% |
| exon 3 & 4 | (361-465) | 409 | 10% |
| exon 5 | (465-496) | 283 | 7% |
| exon 6 | (497-545) | 438 | 11% |
| exon 7 | (545-594) | 319 | 8% |
| exon 8 & 9 | (594-664) | 693 | 17% |
| exon 10 | (664-745) | 142 | 3% |
Last modified | 2025-09-04