Mutation statistics

October 24th, 2011 |

Statistics of ABCD1 mutations

	All mutations		Non-recurrent
	N	%	N	%
All X-ALD mutations in database	1236	N/A	582	47 %
missense mutations	760	61 %	296	51 %
frame shift mutations	274	22 %	166	29 %
nonsense mutations	121	10 %	67	12 %
amino acid insertions/deletions	43	3 %	35	6 %
one or more exons deleted	38	3 %	18	3 %

77 %	of all ABCD1 point mutations are transitions (T>C, C>T, G>A, A>G)
23 %	of all ABCD1 point mutations are transversions (T>A or G, C>G or A, G>C or T, A>T or C)
74 %	of all ABCD1 mutations result in absence of ALDP
77 %	of all non-recurrent ABCD1 mutations result in absence of ALDP

Most frequently identified mutations

N	N	Allele	N	Allele	N	Allele	N	Allele	N	Allele
81	79	p.Gln472fsX555
40	20	p.Arg617His	14	p.Arg617Cys	4	p.Arg617Gly	1	p.Arg617Leu	1	p.Arg617Ser
36	24	p.Arg401Gln	12	p.Arg401Trp
34	20	p.Arg518Gln	10	p.Arg518Trp	1	p.Arg518Gly	2	p.Phe517fs
25	25	p.Arg554His
24	23	p.Gly266Arg	1	p.Gly266Glu
22	20	p.Pro560Leu	1	p.Pro560Arg	1	p.Pro560Ser
22	20	p.Arg660Trp	1	p.Arg660Pro	1	p.Arg660Gln
21	13	p.Tyr174Cys	5	p.Tyr174Ser	2	p.Tyr174Asp	1	p.Tyr174His
19	9	p.Arg152Cys	5	p.Arg152Leu	1	p.Arg152Pro	4	p.Arg152Ser
15	14	p.Gly512Ser	1	p.Gly512Cys
15	12	p.Ser606Leu	3	p.Ser606Pro
15	14	p.Glu609Lys	1	p.Glu609Gly
15	14	p.Pro543Leu
14	7	p.Arg591Gln	5	p.Arg591Trp	2	p.Arg591Pro
12	6	p.Arg104Cys	5	p.Arg104His	1	p.Arg104Leu
11	6	p.Glu291del	4	p.Glu291Lys	1	p.Glu291Asp

Incidence of mutations in each genomic amplicon Boehm et al. Based on the analysis of 929 X-ALD mutations.

Exon	amino acids	N	Percentage
exon 1a	(1-100)	52	6%
exon 1b	(75-188)	164	18%
exon 1c	(177-300)	180	19%
exon 2	(301-361)	39	4%
exon 3 & 4	(361-465)	79	8%
exon 5	(465-496)	79	8%
exon 6	(497-545)	106	11%
exon 7	(545-594)	75	8%
exon 8 & 9	(594-664)	141	15%
exon 10	(664-745)	20	2%