Stage II: Lille AD cohort | |||||||||
---|---|---|---|---|---|---|---|---|---|
Gene locationa | DNAb | Proteinc | dbSNP | Total number | MAF AD | MAF C | Protein location | PolyPhen (PSIC) | SIFT |
Exon 5 | c.908insA | p.I303NfsX13 | 1 | 0.0004 | β-chain | ||||
Exon 6 | c.1012C > T | p.R338W | 1 | 0.0004 | β-chain | probable (2.37) | not tolerated (0.00) | ||
Exon 7 | c.1105A > C | p.N369H | rs9331936 | 6 | 0.0023 | β-chain | possible (1.56) | tolerated (0.15) | |
Exon 8 | c.1333_1341del | p.T445_D447del | 3 | 0.0011 | β-chain | ||||
Exon 8 | c.1343C > T | p.S448L | rs13494 | 1 | 0.0004 | β-chain | benign (0.73) | tolerated (0.23) | |
Exon 8 | c.1358G > A | p.G453S | rs34627536 | 1 | 0.0004 | β-chain | benign (0.39) | ||
Exon 5 | c.965T > C | p.P322L | 5 | 0.0015 (4 AD) | 0.0008 (1 C) | β-chain | possible (1.96) | tolerated (0.25) | |
Exon 7 | c.1138G > A | p.D380N | rs9331938 | 5 | 0.0015 (4 AD) | 0.0008 (1 C) | β-chain | benign (0.32) | tolerated (0.36) |
Exon 7 | c.1310G > A | p.R437Q | 1 | 0.0008 | β-chain | benign (0.700) | |||
Stage II: Toronto AD cohort | |||||||||
Gene location a | DNA b | Protein c | dbSNP | Total Number | MAF AD | MAF C | Protein location | PolyPhen (PSIC) | SIFT |
Exon 7 | c.1138G > A | p.D380N | rs9331938 | 1 | 0.0016 | β-chain | benign (0.322) | tolerated (0.36) | |
Exon 8 | c.1333_1341del | p.T445_D447del | 1 | 0.0016 | β-chain | ||||
Exon 7 | c.1105A > C | p.N369H | rs9331936 | 3 | 0.0033 (2 AD) | 0.0022 (1 C) | β-chain | possibly (1.557) | tolerated (0.15) |
Exon 8 | c.1343C > T | p.S448L | rs13494 | 3 | 0.0033 (2 AD) | 0.0022 (1 C) | β-chain | benign (0.73) | tolerated (0.23) |