Annotation Detail

Information
Associated Genes
MAPT
Associated Variants
MAPT p.Gly781Arg (p.G781R) ( ENST00000420682.7, ENST00000680674.1, ENST00000334239.12, ENST00000571987.5, ENST00000351559.10, ENST00000262410.10, ENST00000431008.7, ENST00000415613.6, ENST00000446361.7, ENST00000344290.10, ENST00000574436.5, ENST00000535772.6 )
MAPT p.Gly781Arg (p.G781R) ( ENST00000334239.12, ENST00000680674.1, ENST00000420682.7, ENST00000431008.7, ENST00000571987.5, ENST00000351559.10, ENST00000262410.10, ENST00000446361.7, ENST00000415613.6, ENST00000574436.5, ENST00000344290.10, ENST00000535772.6 )
MAPT p.Gly781Arg (p.G781R) ( ENST00000571987.5, ENST00000574436.5, ENST00000680674.1, ENST00000262410.10, ENST00000334239.12, ENST00000344290.10, ENST00000351559.10, ENST00000415613.6, ENST00000420682.7, ENST00000431008.7, ENST00000446361.7, ENST00000535772.6 )
MAPT p.Gly781Arg (p.G781R) ( 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
Slow wave and rem sleep mechanisms are differently altered in hereditary pick disease associated with the TAU G389R mutation.
Pubmed
15844669
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.431670585750864
Year of publication
2005
Drugs