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Table 3 Rare non-synonymous CLU variants identified in Stage II Lille and Toronto AD cohorts.

From: Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk

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)
  1. 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).