Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Val729Met (p.V729M)
(
ENST00000262410.10,
ENST00000446361.7,
ENST00000415613.6,
ENST00000535772.6,
ENST00000574436.5,
ENST00000344290.10,
ENST00000334239.12,
ENST00000680674.1,
ENST00000420682.7,
ENST00000431008.7,
ENST00000571987.5,
ENST00000351559.10 )
MAPT p.Val729Met (p.V729M) ( ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6, ENST00000571987.5, ENST00000574436.5, ENST00000680674.1 ) - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- The conclusion is that the type and distribution of tau deposits in HFTD1 and HFTD2, the physical structure of filaments, and tau isoform composition in HFTD1 differ from Alzheimer's disease and an FTDP-17 family with a V337M mutation in the tau gene.
- Pubmed
- 9811325
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.461303287807418
- Year of publication
- 1998
Drugs