Annotation Detail
Information
- Associated Genes
- MAPT
- Associated Variants
-
MAPT p.Gly664Val (p.G664V)
(
ENST00000420682.7,
ENST00000680674.1,
ENST00000334239.12,
ENST00000351559.10,
ENST00000431008.7,
ENST00000571987.5,
ENST00000446361.7,
ENST00000415613.6,
ENST00000262410.10,
ENST00000344290.10,
ENST00000574436.5,
ENST00000535772.6 )
MAPT p.Pro693Leu (p.P693L) ( ENST00000431008.7, ENST00000446361.7, ENST00000262410.10, ENST00000415613.6, ENST00000574436.5, ENST00000334239.12, ENST00000420682.7, ENST00000571987.5, ENST00000351559.10, ENST00000344290.10, ENST00000535772.6, ENST00000680674.1 )
MAPT p.Leu707Arg (p.L707R) ( ENST00000262410.10, ENST00000446361.7, ENST00000415613.6, ENST00000535772.6, ENST00000574436.5, ENST00000344290.10, ENST00000680674.1, ENST00000420682.7, ENST00000334239.12, ENST00000431008.7, ENST00000571987.5, ENST00000351559.10 )
MAPT p.Ser712Phe (p.S712F) ( ENST00000344290.10, ENST00000574436.5, ENST00000535772.6, ENST00000262410.10, ENST00000415613.6, ENST00000446361.7, ENST00000571987.5, ENST00000431008.7, ENST00000351559.10, ENST00000334239.12, ENST00000420682.7, ENST00000680674.1 )
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.Gly664Val (p.G664V) ( 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.Pro693Leu (p.P693L) ( 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.Leu707Arg (p.L707R) ( 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.Ser712Phe (p.S712F) ( 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
- dementia
- Source Database
- DisGeNET
- Description
- Dementia in one or more first-degree family members was found in 43% of patients and mutation analysis of the tau gene showed mutations in 34 patients (19 P301L, five L315R, four G272V, four R406W, one Delta K280 and one S320F), all with a positive family history for dementia (14% of the total population, 32% of patients with a positive family history).
- Pubmed
- 12876142
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.232545904129429
- Year of publication
- 2003
Drugs