Table 5.

Previously published A subgroup alleles and the 8 novel A subgroup alleles reported here

Allele
description
Nucleotide
change(s)
Amino acid
change(s)5-150
Individuals
(families)5-151
Geographic origin5-152Reference/GenBank
accession no.
A3-1 871G>A D291N 15-153 France (United States) A37 
A3-2 829G>A V277M — (Brazil) A312 
 1060C− P354 frameshift    
Ax-1 646T>A F216I 12  (6) Various Ax9,Ax(1)15, A10813 
Ax-25-155 646T>A F216I 6  (2) Sweden Ax(2), AF01662515 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-3 297A>G  3  (1) Sweden Ax(3), AF01662415 
 646T>A F216I    
 681G>A     
 771C>T     
 829G>A V277M    
Ax-45-155 646T>A F216I Poland AF324006 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-55-155 646T>A F216I United States AF324007 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-6 996G>A W332 stop New Zealand AF324013 
Ael-1 798-804 (+G) F269 frameshift 28  (16) Various Ael11, A10913 
Ael-2 467C>T P156L — (Japan) A11013 
 646T>A F216I    
 681G>A     
Aw-1 407C>T T136M 2  (2) United Kingdom AF324010 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-2 350G>C G117A 6  (6) New Zealand, United Kingdom, Australia, United States AF324009 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-3 203G>C R68T 28  (> 5) Scandinavia AF324008 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-4 721C>T R241W 2  (2) Belgium, Germany AF324011 
Aw-5 965A>G E322G 2  (1) Finland AF324012 
cis-AB 467C>T P156L — (mainly Japan) cis-AB8 41  
 803G>C G268A    
Allele
description
Nucleotide
change(s)
Amino acid
change(s)5-150
Individuals
(families)5-151
Geographic origin5-152Reference/GenBank
accession no.
A3-1 871G>A D291N 15-153 France (United States) A37 
A3-2 829G>A V277M — (Brazil) A312 
 1060C− P354 frameshift    
Ax-1 646T>A F216I 12  (6) Various Ax9,Ax(1)15, A10813 
Ax-25-155 646T>A F216I 6  (2) Sweden Ax(2), AF01662515 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-3 297A>G  3  (1) Sweden Ax(3), AF01662415 
 646T>A F216I    
 681G>A     
 771C>T     
 829G>A V277M    
Ax-45-155 646T>A F216I Poland AF324006 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-55-155 646T>A F216I United States AF324007 
 681G>A     
 771C>T     
 829G>A V277M    
Ax-6 996G>A W332 stop New Zealand AF324013 
Ael-1 798-804 (+G) F269 frameshift 28  (16) Various Ael11, A10913 
Ael-2 467C>T P156L — (Japan) A11013 
 646T>A F216I    
 681G>A     
Aw-1 407C>T T136M 2  (2) United Kingdom AF324010 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-2 350G>C G117A 6  (6) New Zealand, United Kingdom, Australia, United States AF324009 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-3 203G>C R68T 28  (> 5) Scandinavia AF324008 
 467C>T P156L    
 1060C− P354 frameshift    
Aw-4 721C>T R241W 2  (2) Belgium, Germany AF324011 
Aw-5 965A>G E322G 2  (1) Finland AF324012 
cis-AB 467C>T P156L — (mainly Japan) cis-AB8 41  
 803G>C G268A    

Nucleotide and amino acid changes are given in comparison to the consensus A1  allele.

▸ indicates novel A subgroup allele reported in this paper.

F5-150

Charged residues involved in amino acid changes are shown in bold.

F5-151

The number of samples identified by sequencing or PCR-ASP in this study is given for each allele (the number of apparently unrelated families investigated is given in brackets).

F5-152

Country from which the samples were referred (countries in parentheses refer to samples reported elsewhere).

F5-153

The phenotype of this sample was reported to be Ax, not A3.

F5-155

These alleles differ by their intron 6 polymorphism showing 3 different cross-over regions between A andO1v, namely, nt 189-225 in intron 6 forAx-2, nt 236-445 in intron 6 forAx-4, and nt 298 in exon 6 to nt 41 in intron 6 for Ax-5.

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