Mutation statistics

March 1st, 2017 |

Statistics of ABCD1 mutations

All mutations
Non-recurrent
N % N %
All ALD mutations in database 1794 N/A 765 43 %
missense mutations 1098 61 % 375 49 %
frame shift mutations 398 22 % 227 30 %
nonsense mutations 179 10 % 95 12 %
amino acid insertions/deletions 68 4 % 47 6 %
one or more exons deleted 52 3 % 21 3 %
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
107 p.Gln472Argfs*83
36 p.Arg401Gln
36 p.Arg518Gln
34 p.Arg554His
30 p.Gly266Arg
30 p.Pro560Leu
30 p.Arg617His
26 p.Glu609Lys
25 p.Arg660Trp

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 1573 ALD mutations (November 5th, 2013).

Exon amino acids N Percentage
exon 1a (1-100) 95 6%
exon 1b (75-188) 241 15.3%
exon 1c (177-300) 245 15.6%
exon 2 (301-361) 64 4.1%
exon 3 & 4 (361-465) 138 8.8%
exon 5 (465-496) 136 8.6%
exon 6 (497-545) 180 11.4%
exon 7 (545-594) 132 8.4%
exon 8 & 9 (594-664) 257 16.3%
exon 10 (664-745) 40 2.5%

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