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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
  1. Abbreviations: PolyPhen Polymorphism phenotype, SIFT Sorting Intolerant From Tolerant, EVS Exome Variant Server, ExAC Exome Aggregation Consortium, PSEN Presenilin, APP Amyloid precursor protein
  2. aRepresents sequence data from 4300 unrelated European Americans (8598 alleles)
  3. bRepresents sequence data from 60,706 unrelated European Americans (121,204 alleles)