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.Arg798Trp (p.R798W) ( ENST00000334239.12, ENST00000420682.7, ENST00000574436.5, ENST00000571987.5, ENST00000535772.6, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000262410.10, ENST00000431008.7, ENST00000446361.7, ENST00000680674.1 )
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 )
MAPT p.Arg798Trp (p.R798W) ( 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
- Conditional expression systems for 4-repeat wild-type (WT) tau or the corresponding mutants V337M and R406W were established in human neuroglioma H4 cells to study the effect of tau mutations on the physicochemical properties of tau, and to develop a cellular model for the formation of filamentous tau characteristic of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) and Alzheimer's disease.
- Pubmed
- 12414518
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.461303287807418
- Year of publication
- 2002
Drugs