rs63751243

This is a variant in the GRN gene that changes a alanine to an valine.

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ClinVar annotation

Uncertain Significance★☆☆☆
8 submitters18 publications

GRN-related frontotemporal lobar degeneration with Tdp43 inclusions (FTD2); Neuronal ceroid lipofuscinosis 11

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Research that mentions this SNP (1)

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Association of TMEM106B Gene Polymorphism With Age at Onset in Granulin Mutation Carriers and Plasma Granulin Protein Levels
AssociationN=123Carlos Cruchaga et al.(2011)· Archives of Neurology

This study found that rs1990622 in TMEM106B is associated with a 13-year earlier age of disease onset in GRN mutation carriers (p=9.9×10⁻⁷) and with lower plasma granulin levels in both healthy individuals (p=4×10⁻⁴) and mutation carriers (p=0.0027). A non-synonymous SNP rs3173615 (Thr185Ser) was identified in perfect linkage disequilibrium with rs1990622, suggesting TMEM106B may modulate granulin protein levels and modify age of onset in frontotemporal dementia.

Traits studied:Age at onset of dementiaFrontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP)
PubMedDOIMetascience Observatory

About GRN

Granulins are a family of secreted, glycosylated peptides that are cleaved from a single precursor protein with 7.5 repeats of a highly conserved 12-cysteine granulin/epithelin motif. The 88 kDa precursor protein, progranulin, is also called proepithelin and PC cell-derived growth factor. Cleavage of the signal peptide produces mature granulin which can be further cleaved into a variety of active, 6 kDa peptides. These smaller cleavage products are named granulin A, granulin B, granulin C, etc. Epithelins 1 and 2 are synonymous with granulins A and B, respectively. Both the peptides and intact granulin protein regulate cell growth. However, different members of the granulin protein family may act as inhibitors, stimulators, or have dual actions on cell growth. Granulin family members are important in normal development, wound healing, and tumorigenesis. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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