Skip to main content

Advertisement

Table 2 Rare coding β-chain variants transfected in cells

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

# Gene locationa Proteinb Proteinc PolyPhen2 (PSIC) SIFT
Alzheimer specific CLU mutations
1 Exon 5 p.I303NfsX13 p.I251NfsX13 - -
2 Exon 5 p.A309T p.A257T Benign (0.32) Tolerated (0.65)
3 Exon 6 p.R338W p.R286W Probable (1.00) Not tolerated (0.00)
4 Exon 6 p.T345M p.T293M Probable (1.00) Tolerated (0.09)
5 Exon 6 p.I360N p.I308N Possible (0.68) Not tolerated (0.00)
6 Exon 7 p.E431Q p.E379Q Possible (0.83) Tolerated (0.35)
7 Exon 7 p.T440M p.T388M Possible (0.92) Not tolerated (0.01)
8 Exon 8 p.T445_D447del p.T393_D395del - -
CLU mutations observed in patients and controls
9 Exon 5 p.P322L p.P270L Benign (0.03) Tolerated (0.25)
10 Exon 7 p.N369H p.N317H Probable (1.0) Tolerated (0.15)
  1. aGene location position according to CLU transcript with 9 coding exons [NM_001831.2]
  2. bNumbering according to CLU protein sequence [NP_001822.2]
  3. cFor easy comparison to variants reported in Exome Variant Server (EVS), numbering according to recently updated CLU protein sequence [NP_001822.3 consisting of 449 AA] is given. The first 8 mutations were observed in AD patients only, variants 9 and 10 in patients and controls from this and previous study [3]
  4. Belgian carriers of p.T445_D447del also harbor p.A309T. Predictions of pathogenicity of missense mutations was performed using Polyphen2 (benign/possibly damaging/probably damaging) and SIFT (tolerated/not tolerated). Small indels and non-synonymous mutations with predicted pathogenic effects are marked in bold