Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Met139Ile (p.M139I)
(
ENST00000700317.1,
ENST00000324501.10,
ENST00000700273.1,
ENST00000700321.1,
ENST00000700322.1,
ENST00000700265.1,
ENST00000700271.1,
ENST00000394164.5,
ENST00000700378.1,
ENST00000700320.1,
ENST00000700469.1,
ENST00000700307.1,
ENST00000700389.1,
ENST00000700323.1,
ENST00000557293.6,
ENST00000700313.1,
ENST00000700431.1,
ENST00000700306.1,
ENST00000394157.7,
ENST00000700324.1,
ENST00000357710.8,
ENST00000700468.1,
ENST00000554131.6,
ENST00000700268.1,
ENST00000700437.1,
ENST00000557511.5,
ENST00000700269.1,
ENST00000700267.1,
ENST00000553599.6,
ENST00000556951.6,
ENST00000700375.1,
ENST00000700312.1 )
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 )
PSEN1 p.Met139Ile (p.M139I) ( ENST00000324501.10, ENST00000357710.8, ENST00000394157.7, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700431.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
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
- Senile Plaques
- Source Database
- DisGeNET
- Description
- Immunocytochemical examination of brains from individuals with the N141I PS2 mutation or eight different PS1 mutations, spanning the molecule from the second transmembrane domain to the large cytoplasmic loop domain, revealed immunodecoration of no senile plaques and only neurofibrillary tangles in the M139I PS1 mutation stained with PS1 antibodies.
- Pubmed
- 11126202
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00760037241824849
- Year of publication
- 2000
Drugs