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Table 1 Rare non-synonymous CLU mutations identified in 74 AD patients

From: Reduced secreted clusterin as a mechanism for Alzheimer-associated CLU mutations

Gene locationa DNAb Proteinc Proteind dbSNP This study Previous study [3] Protein location PolyPhen2 (PSIC) SIFT PMUT EVS (EA) 1000GP
Exon 6 c.1079 T > A p.I360N p.I308N 1 AD - β-chain Possible (0.677) Not tolerated (0.00) Pathological (0.9659) - -
Exon 5 c.701G > A p.R234H p.R182H 1 AD 2 AD, 1 C α-chain Probably (0.995) Tolerated (0.15)   0.0002 0.001
Exon 5 c.764C > T p.T255I p.T203I rs4127629 1 AD 5 AD, 6 C β-chain Benign (0.041) Tolerated (0.29) Pathological (0.6284) 0.003 0.001
  1. Abbreviations: AD Alzheimer patient, C control individual, AAO Age of Onset, y years
  2. aGene location position according to CLU transcript with 9 coding exons [NM_001831.2]
  3. bNumbering according to CLU mRNA sequence starting at the A of the ATG translation initiation codon in [NM_001831.2]
  4. cNumbering according to CLU protein sequence [NP_001822.2 consisting of 501 AA]
  5. dFor easy comparison to Exome Variant Server, numbering according to updated CLU protein sequence [NP_001822.3 consisting of 449 AA] is given. Mutations were compared to our findings previously described in Belgian patients [3]. Predictions of pathogenicity was performed using Polyphen2 (benign/possibly damaging/probably damaging), SIFT (tolerated/not tolerated) and PMUT (neutral/pathological). Minor allele frequency (MAF) was compared to Exome Variant Server (EVS) in European American individuals (EA) and 1000 GenomesProject (1000GP)