Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Glu734Val (p.E734V)
(
ENST00000535772.6,
ENST00000344290.10,
ENST00000574436.5,
ENST00000446361.7,
ENST00000415613.6,
ENST00000262410.10,
ENST00000351559.10,
ENST00000431008.7,
ENST00000571987.5,
ENST00000334239.12,
ENST00000420682.7,
ENST00000680674.1 )
MAPT p.Glu734Val (p.E734V) ( 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
- We report on a 55-year old woman with frontotemporal dementia and a family history of FTDP-17 in whom we found a novel E12 (Glu342Val) tau gene mutation, prominent frontotemporal neuron loss, intracytoplasmic tau aggregates, paired helical tau filaments, increased 4R tau messenger RNA, increased 4R tau without E2 or E3 inserts, decreased 4R tau with these inserts, and a 4R:3R tau ratio greater than 1 in gray and white matter.
- Pubmed
- 11117541
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.461303287807418
- Year of publication
- 2000
Drugs