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Table 1 Summary of observed effects of TREM2 variants

From: TREM2 ectodomain and its soluble form in Alzheimer’s disease

Variant SNP number TREM2 function Related disease CSF sTREM2 level Shedding of TREM2 ectodomain Ligand-TREM2 affinity
Q33X rs104894002 Complete loss NHD, FTD Decrease Decrease Decrease
Y38C NA Complete loss NHD, FTD Decrease Decrease Decrease
R47H rs75932628 Partial loss AD Increase Increase Decrease
R62H rs374851046 Partial loss AD Non Non Decrease
T66M rs201258663 Partial loss NHD, FTD Decrease Decrease Decrease
D87N rs142232675 Partial loss AD Decrease Decrease Decrease
T96K rs2234253 Partial loss AD Decrease Decrease Increase
R98W rs147564421 Partial loss AD NA Decrease NA
R136Q rs149622783 NA AD Decrease Decrease Non
G145T NA Partial loss AD NA Decrease Decrease
E151K rs79011726 Partial loss AD NA NA NA
H157Y rs2234255 NA AD NA Increase Non
W191X rs2234258 Partial loss AD Decrease NA NA
L211P rs2234256 Partial loss AD Decrease NA NA
  1. FTD frontotemporal dementia, NHD Nasu-Hakola disease, NA not applicable