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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.