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Table 5 Rare non-synonymous CLU variants identified in Stage III Caribbean Hispanic AD cohort.

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

Stage III: Caribbean Hispanic AD cohort       
Gene locationa DNAb Proteinc dbSNP Total number MAF AD MAF C Protein location PolyPhen (PSIC) SIFT
Exon 5 c.965T > C p.P322L   2 0.0022   β-chain possible (1.96) tolerated (0.25)
Exon 6 c.991G > A p.D331N   2 0.0022   β-chain benign (0.119) tolerated (0.28)
Exon 7 c.1291G > C p.E431Q   1 0.0011   β-chain benign (0.133) tolerated (0.35)
Exon 7 c.1105A > C p.N369H* rs9331936 155 0.08 (84 AD) 0.07 (71 C) β-chain possible (1.56) tolerated (0.00)
Exon 7 c.1138G > A p.D380N* rs9331938 35 0.01 (13 AD) 0.02 (22 C) β-chain benign(0.32) tolerated (0.36)
Exon 8 c.1343C > T p.S448L* rs13494 27 0.01 (13 AD) 0.01 (14 C) β-chain benign(0.73) tolerated (0.23)
Exon 6 c.1004C > T p.T335I   1   0.0010 β-chain benign (1.077) tolerated (0.64)
Exon 7 c.1153G > A p.V385I   1   0.0010 β-chain benign (0.150) tolerated (0.4)
  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. (Caribbean Hispanic cohort: 926 patient and 974 control alleles), * = 3 non-synonymous variants with intermediate frequencies (MAF = 1-5%) in patients and control individuals. Prediction of pathogenicity of missense mutations was performed using in silico programs PolyPhen (benign/possibly damaging/probably damaging) and SIFT (tolerated/not tolerated).