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 origin5-152 . | Reference/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 | 1 | Poland | AF324006 |
681G>A | |||||
771C>T | |||||
829G>A | V277M | ||||
▸Ax-55-155 | 646T>A | F216I | 1 | United States | AF324007 |
681G>A | |||||
771C>T | |||||
829G>A | V277M | ||||
▸Ax-6 | 996G>A | W332 stop | 1 | 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 origin5-152 . | Reference/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 | 1 | Poland | AF324006 |
681G>A | |||||
771C>T | |||||
829G>A | V277M | ||||
▸Ax-55-155 | 646T>A | F216I | 1 | United States | AF324007 |
681G>A | |||||
771C>T | |||||
829G>A | V277M | ||||
▸Ax-6 | 996G>A | W332 stop | 1 | 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.
Charged residues involved in amino acid changes are shown in bold.
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).
Country from which the samples were referred (countries in parentheses refer to samples reported elsewhere).
The phenotype of this sample was reported to be Ax, not A3.
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.