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