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 |
- Abbreviations: AD Alzheimer patient, C control individual, AAO Age of Onset, y years
-
aGene location position according to CLU transcript with 9 coding exons [NM_001831.2]
-
bNumbering according to CLU mRNA sequence starting at the A of the ATG translation initiation codon in [NM_001831.2]
-
cNumbering according to CLU protein sequence [NP_001822.2 consisting of 501 AA]
-
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)
