Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
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 )
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I) ( ENST00000677414.1, ENST00000677880.1, ENST00000366782.6, ENST00000626989.3, ENST00000678320.1, ENST00000422240.6, ENST00000472139.2, ENST00000679088.1, ENST00000366783.8, ENST00000677599.1, ENST00000676945.1 )
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 )
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- frontotemporal dementia
- Source Database
- DisGeNET
- Description
- Moreover, we observed similarly reduced taxol/GTP-stimulated tubulin polymerization from gray matter obtained from patients with AD caused by PSEN2 N141I mutation or frontotemporal dementia with parkinsonism linked to chromosome-17 caused (FTDP-17) by TAU V337M or P301L mutation.
- Pubmed
- 16155344
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00372424133900355
- Year of publication
- 2005
Drugs