statistics of X-ALD mutations

 
All mutations
Non-recurrent
  N % N %
All X-ALD mutations in database 1065 N/A 522 49 %
missense mutations 652 61 % 271 52 %
frame shift mutations 239 22 % 143 27 %
nonsense mutations 103 10 % 58 11 %
amino acid insertions/deletions 39 4 % 32 6 %
one or more exons deleted 32 3 % 18 3 %

 

78 % of all ABCD1 point mutations are transitions (T>C, C>T, G>A, A>G)
22 % of all ABCD1 point mutations are transversions (T>A or G, C>G or A, G>C or T, A>T or C)
   
75 % of all ABCD1 mutations result in absence of ALDP
78 % of all non-recurrent ABCD1 mutations result in absence of ALDP

 

Amino acid residues at which ten or more mutations have been reported

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N N Allele N Allele N Allele N Allele N Allele
71 69 p.Glu471fs 1 p.Glu471fs 1 p.Glu471fs        
31 19 p.Arg518Gln 9 p.Arg518Trp 1 p.Arg518Gly 2 p.Phe517fs    
31 16 p.Arg617His 10 p.Arg617Cys 3 p.Arg617Gly 1 p.Arg617Leu 1 p.Arg617Ser
29 20 p.Arg401Gln 9 p.Arg401Trp            
23 23 p.Arg554His                
21 20 p.Gly266Arg 1 p.Gly266Glu            
19 17 p.Pro560Leu 1 p.Pro560Arg 1 p.Pro560Ser        
18 11 p.Tyr174Cys 4 p.Tyr174Ser 2 p.Tyr174Asp 1 p.Tyr174His    
17 15 p.Arg660Trp 1 p.Arg660Pro 1 p.Arg660Gln        
15 12 p.Ser606Leu 3 p.Ser606Pro            
14 6 p.Arg152Cys 5 p.Arg152Leu 1 p.Arg152Pro 2 p.Arg152Ser    
14 14 p.Pro543Leu                
14 7 p.Arg591Gln 5 p.Arg591Trp 2 p.Arg591Pro        
14 13 p.Glu609Lys 1 p.Glu609Gly            
11 10 p.Gly512Ser 1 p.Gly512Cys  
       
10 5 p.Glu291del 4 p.Glu291Lys 1 p.Glu291Asp
        
10 5 p.Arg104Cys 4 p.Arg104His 1 p.Arg104Leu
        

 

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%

Last update: 19-Jan-2010