Mutations Position Table

TREM2 R62 Mutations

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Mutation Clinical
Phenotype
Pathogenicity Neuropathology Biological Effect Genomic Position Coding/Non-Coding Genomic Region Mutation Type
Codon Change
Research
Models
Primary
Papers
R62C
AD : Unclear Pathogenicity

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.



rs201258314
Coding Exon 2 Point, Missense
CGT to TGT
0 Pottier et al., 2013;
Song et al., 2017
R62H
Alzheimer's Disease AD : Risk Modifier

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.



rs143332484
Coding Exon 2 Point, Missense
CGT to CAT
0 Jin et al., 2014;
Sims et al., 2017

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