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.Asn671Lys (p.N671K) ( ENST00000334239.12, ENST00000574436.5, ENST00000415613.6, ENST00000344290.10, ENST00000262410.10, ENST00000446361.7, ENST00000431008.7, ENST00000535772.6, ENST00000420682.7, ENST00000351559.10, ENST00000571987.5, ENST00000680674.1 )
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.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.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.Asn671Lys (p.N671K) ( ENST00000262410.10, ENST00000446361.7, ENST00000351559.10, ENST00000344290.10, ENST00000334239.12, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, 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.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
- Pick Disease of the Brain
- Source Database
- DisGeNET
- Description
- We have studied biochemical and structural parameters of several missense and deletion mutants of tau protein (G272V, N279K, DeltaK280, P301L, V337M, R406W) found in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).
- Pubmed
- 10995239
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.431670585750864
- Year of publication
- 2000
Drugs