Mutation statistics

June 19th, 2017 |

Statistics of ABCD1 mutations

All mutations
Non-recurrent
N % N %
All ALD mutations in database 2455 N/A 743 43 %
missense mutations 1486 61 % 339 46 %
nonsense mutations 247 10 % 96 13 %
frame shift mutations 432 18 % 179 24 %
amino acid insertions/deletions 89 4 % 45 6 %
splice site mutations 96 4 % 34 5 %
one or more exons deleted 78 3 % 23 3 %
benign variants 27 1 % 27 4 %
Variants of unknown significance (VUS) 154
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 ~20% of all mutations identified)

N Allele
133 p.Gln472Argfs*83
44 p.Arg554His
42 p.Arg518Gln
42 p.Arg617His
39 p.Pro560Leu
39 p.Arg660Trp
36 p.Arg401Gln
33 p.Pro543Leu
31 p.Gly266Arg
30 p.Arg617Cys
26 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%

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