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)
|
- aGene location position according to the longest CLU transcript with 9 coding exons [NM_001831.2], bNumbering according to CLU mRNA sequence starting at the A of the ATG translation initation codon in the reference sequence [GenBank accesion number NM_001831.2], cNumbering according to CLU protein sequence [GenPept accession number NP_001822.2]; MAF = Minor Allele Frequency, calculated upon the minimum number of successful sequences (Lille cohort: 2650 patient and 1214 control alleles; Toronto cohort: 608 patient and 462 control alleles). Prediction of pathogenicity of missense mutations was performed using in silico programs PolyPhen (benign/possibly damaging/probably damaging) and SIFT (tolerated/not tolerated).