Table 1 Bioinformatic analysis of APP, PSEN1, and PSEN2 variants of unknown pathogenicity
From: Discovery and validation of autosomal dominant Alzheimer’s disease mutations
Gene | Variant | EVSa | ExACb | PolyPhen | SIFT | Variant previously reported | Location | PSEN1-PSEN2 conservation |
|---|---|---|---|---|---|---|---|---|
APP | T719N | 0 | 0 | Probably damaging | Damaging | Yes | Exon 17 | N/A |
PSEN1 | M84V | 0 | 0 | Probably damaging | Tolerated | Yes | Exon 4 (TM-1) | Yes |
PSEN1 | c.379_382delXXXXinsG | 0 | 0 | N/A | Tolerated | No | Exon 5 (HL1) | Yes |
PSEN1 | A396T | 0 | 0 | Probably damaging | Tolerated | Yes | Exon 11 (HL8) | No |
PSEN2 | L238F | 2 | 2 | Probably damaging | Damaging | Yes | Exon 7 (TM-V) | Yes |
PSEN2 | R284G | 0 | 0 | Probably damaging | Damaging | No | Exon 8 | Yes |