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Table 2 Rare non-synonymous CLU variants identified in Stage I Flanders-Belgium AD cohort.

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

Stage I: Flanders-Belgium AD cohort       
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)
  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 (1698 patient and 1318 control alleles); (1) 3 AD patients carry 2 different CLU variants (2) 1 AD patient with 2 CLU variants (3) 1 control individual with 2 CLU variants. Prediction of pathogenicity of missense mutations was performed using in silico programs PolyPhen (benign/possibly damaging/probably damaging) and SIFT (tolerated/not tolerated).