Stage I: Flanders-Belgium AD cohort | |||||||||
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Gene locationa | DNAb | Proteinc | dbSNP | Total number | MAF AD | MAF C | Protein location | PolyPhen (PSIC) | SIFT |
Exon 5 | c.924G > A | p.A309T | 3 | 0.0018 (1) | β-chain | benign (1.07) | tolerated (0.65) | ||
Exon 6 | c.1012C > T | p.R338W | 2 | 0.0012 (2) | β-chain | probable (2.37) | not tolerated (0.00) | ||
Exon 6 | c.1034C > T | p.T345M | 1 | 0.0006 (2) | β-chain | possible (1.56) | tolerated (0.09) | ||
Exon 7 | c.1105A > C | p.N369H | rs9331936 | 2 | 0.0012 | β-chain | possible (1.56) | tolerated (0.15) | |
Exon 7 | c.1138G > A | p.D380N | rs9331938 | 1 | 0.0006 | β-chain | benign (0.32) | tolerated (0.36) | |
Exon 7 | c.1319C > T | p.T440M | 1 | 0.0006 | β-chain | possible (1.75) | not tolerated (0.01) | ||
Exon 8 | c.1333_1341del | p.T445_D447 del | 3 | 0.0018 (1) | β-chain | ||||
Exon 8 | c.1343C > T | p.S448L | rs13494 | 1 | 0.0006 | β-chain | benign (0.73) | tolerated (0.23) | |
Exon 8 | c.1349T > G | p.V450G | 1 | 0.0006 | β-chain | benign (1.42) | tolerated (0.15) | ||
Exon 1 | c.48C > A | p.S16R | 11 | 0.0029 (5 AD) | 0.0046 (6 C) (3) | extra AA isoform 2 | benign (1.13) | not tolerated (0.00) | |
Exon 1 | c.111C > A | p.H37Q | 4 | 0.0012 (2 AD) | 0.0015 (2 C) | extra AA isoform 2 | possible (1.80) | not tolerated (0.00) | |
Exon 5 | c.701G > A | p.R234H | 3 | 0.0012 (2 AD) | 0.0008 (1 C) (3) | α-chain | possible (1.64) | tolerated (0.15) | |
Exon 5 | c.764C > T | p.T255I | rs4127629 | 11 | 0.0029 (5 AD) | 0.0046 (6 C) | α-chain | benign (0.31) | tolerated (0.29) |
Exon 5 | c.965T > C | p.P322L | 9 | 0.0029 (5 AD) | 0.0030 (4 C) | β-chain | possible (1.96) | tolerated (0.25) | |
Exon 7 | c.1153G > A | p.V385I | 3 | 0.0006 (1 AD) | 0.0015 (2 C) | β-chain | benign (0.15) | tolerated (0.40) | |
Exon 5 | c.703G > A | p.A235T | 1 | 0.0008 | α-chain | benign (1.18) | tolerated (0.16) | ||
Exon 5 | c.797G > A | p.R266Q | 1 | 0.0008 | α-chain | benign (0.27) | tolerated (0.67) | ||
Exon 6 | c.994G > A | p.D332N | 1 | 0.0008 | β-chain | benign (0.04) | tolerated (0.1) | ||
Exon 7 | c.1268G > A | p.R423Q | 1 | 0.0008 | β-chain | benign (0.33) | tolerated (0.54) | ||
Exon 7 | c.1298A > C | p.Q433P | 1 | 0.0008 | β-chain | benign (0.41) | tolerated (0.13) |