Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Arg5His (p.R5H)
(
ENST00000351559.10,
ENST00000535772.6,
ENST00000344290.10,
ENST00000334239.12,
ENST00000431008.7,
ENST00000415613.6,
ENST00000262410.10,
ENST00000446361.7,
ENST00000420682.7,
ENST00000574436.5,
ENST00000571987.5,
ENST00000680674.1 )
MAPT p.Arg5Leu (p.R5L) ( ENST00000262410.10, ENST00000446361.7, ENST00000415613.6, ENST00000535772.6, ENST00000344290.10, ENST00000574436.5, ENST00000420682.7, ENST00000680674.1, ENST00000334239.12, ENST00000431008.7, ENST00000571987.5, ENST00000351559.10 )
MAPT p.Arg5His (p.R5H) ( 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.Arg5Leu (p.R5L) ( 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
- dementia
- Source Database
- DisGeNET
- Description
- Thus, we consider that the Arg5His mutation is an authentic tau gene abnormality responsible for the patient's tau pathology and late-onset dementia.
- Pubmed
- 11921059
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.232545904129429
- Year of publication
- 2002
Drugs