| | | | α-Gal A Orthologs | α-Gal B Orthologs | |
|---|
| | | |
Prokaryotic
|
Eukaryotic
|
Mammalian
|
Eukaryotic
| |
Proband
|
Exon
|
Mutation
| (12) | (27) | (3) | (5)
| Conservation* |
1 | 1 | G43R | 5 | 22 | 3 | 5 | +++ |
2 | 1 | R49G | 1 | 1 | 3 | 4 | + |
3 | 2 | M72I | 0 | 0 | 3 | 4 | + |
4 | 3 | G138E | 3 | 24 | 3 | 5 | +++ |
5 | 5 | L243F | 0 | 4 | 3 | 3 | − |
6 | 5 | S247C | 1 | 3 | 1 | 0 | − |
7 | 5 | D266E | 5 | 22 | 3 | 5 | +++ |
8 | 6 | W287C | 7 | 25 | 3 | 5 | +++ |
9 | 6 | S297C | 2 | 2 | 3 | 5 | + |
10 | 7 | N355K | 2 | 23 | 3 | 2 | +++ |
11 | 7 | E358G | 3 | 1 | 3 | 1 | − |
12 | 7 | P409S | 2 | 6 | 3 | 5 | + |
- *For the degree of evolutionary conservation:− minimal conservation; +, conserved among all three α-Gal A mammalian orthologs and four of five α-Gal B eukaryotic orthologues, with the exception of the α-Gal A exon 7 mutations (18); ++, additionally or alternately conserved among 14–23 of α-Gal A eukaryotic orthologs; +++, conserved among all three α-Gal A mammalian orthologs and five α-Gal B eukaryotic orthologs, and at least 22 α-Gal A eukaryotic orthologues.
Molecular Medicine