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Table 2 Frequencies of validated variants in the pooled sequencing and follow-up case control series of Spanish descent

From: Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

Gene-Exon AA change rs ID Codonchange AD&FTDa Alzheimer's disease cases Controls
      Count (%) AAO range, years Diagnosesb Count (%)
GRN-8 Ile256IlefsX27 - [-/CC] - 1/176 (0.57) 60.5 1 FL 0/459 (0)
MAPT-10 GTC-aTC 149280278 V287I - 2/176 (1.14) 64.5-70.5 1 SE and 1 FL 0/534 (0)
MAPT-4A TCG-TtG 73314997 S318L - 1/176 (0.57) 64.5 1 SE 0/139 (0)
MAPT-4A GGG-aGG 76375268 G213R - 1/176 (0.57) 64.5 1 SE 0/139 (0)
MAPT-4A GTC-GgC 141120474 V224G - 3/176 (1.7) 58.5-72.5 1 FE and 2 FL 1/139 (0.72)
MAPT-4A CAA-CgA 63750072 Q230R - 18/176 (10.23) 50.5-83.5 1 AC, 2 FE, 2 FL, and 13 SE 8/139 (5.8)
MAPT-4A GCC-GtC - A297V - 1/176 (0.57) 59.5 1 FE 0/139 (0)
MAPT-7 GCC-aCC 143624519 A152T - 2/176 (1.14) 57.5 1 AC and 1 SE 0/139 (0)
PSEN1-5 ATG-AcG 63751106 M139T Pathogenic 1/176 (0.57) 47.5 1 SE 0/459 (0)
PSEN1-6 TTG-TTt - L173F Pathogenic 1/176 (0.57) 50.5 1 SE 0/459 (0)
PSEN1-9 GAA-GgA 17125721 E318G Not pathogenic 2/176 (1.14) 56.5-65.5 2 SE 3/139 (2.2)
PSEN1-11 CTG-gTG 63751416 L392V Pathogenic 1/176 (0.57) 42.5 1 FE Not available
  1. aAlzheimer Disease & Frontotemporal Dementia mutation database [15]. bThis column summarizes the status of carriers in Alzheimer's disease cases. AAO, age at onset; AC, autopsy-confirmed Alzheimer's disease; FE, familial early-onset Alzheimer's disease; FL, familial late-onset Alzheimer's disease; GRN, progranulin; MAPT, microtubule-associated protein tau; PSEN1, presenilin 1; SE, sporadic early-onset Alzheimer's disease; SL, sporadic late-onset Alzheimer's disease.