Mutations Position Table

TREM2 R62 Mutations

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Mutation Pathogenicity DNA Change Expected RNA | Protein Consequence Coding/Non-Coding Genomic Region Neuropathology Biological Effect Primary
Papers
R62C
AD : Unclear Pathogenicity Substitution Substitution | Missense Coding Exon 2

Unknown.

Lower cell-surface expression than wild-type TREM2 when co-expressed with its adaptor protein DAP12 in a reporter cell line; activation by lipid ligands reduced in cells expressing R62C compared with cells expressing wild-type TREM2.

Pottier et al., 2013;
Song et al., 2017
R62H
AD : Risk Modifier Substitution Substitution | Missense Coding Exon 2

AD patients heterozygous for the R62H variant: decreased microglial coverage of amyloid plaques and increased accumulation of phagosomes in microglia, compared to non-carriers.

Decreased ligand binding to TREM2 and impaired TREM2-mediated activation.

Jin et al., 2014;
Sims et al., 2017

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