Skip to main content

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
Back to article page

Molecular Neurodegeneration

ISSN: 1750-1326