Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Thr116Ile (p.T116I)
(
ENST00000700389.1,
ENST00000700307.1,
ENST00000700469.1,
ENST00000700320.1,
ENST00000700265.1,
ENST00000394164.5,
ENST00000700378.1,
ENST00000700271.1,
ENST00000700431.1,
ENST00000700313.1,
ENST00000557293.6,
ENST00000700323.1,
ENST00000700273.1,
ENST00000700321.1,
ENST00000324501.10,
ENST00000700317.1,
ENST00000700322.1,
ENST00000700267.1,
ENST00000700269.1,
ENST00000700312.1,
ENST00000700375.1,
ENST00000556951.6,
ENST00000553599.6,
ENST00000394157.7,
ENST00000700306.1,
ENST00000557511.5,
ENST00000554131.6,
ENST00000700268.1,
ENST00000700437.1,
ENST00000700468.1,
ENST00000700324.1,
ENST00000357710.8 )
PSEN1 p.Met233Thr (p.M233T) ( ENST00000557293.6, ENST00000700313.1, ENST00000700323.1, ENST00000700320.1, ENST00000700265.1, ENST00000700271.1, ENST00000394164.5, ENST00000700378.1, ENST00000700389.1, ENST00000700469.1, ENST00000700307.1, ENST00000700322.1, ENST00000324501.10, ENST00000700317.1, ENST00000700273.1, ENST00000700321.1, ENST00000556951.6, ENST00000700375.1, ENST00000553599.6, ENST00000700312.1, ENST00000700267.1, ENST00000700269.1, ENST00000700324.1, ENST00000357710.8, ENST00000557511.5, ENST00000554131.6, ENST00000700268.1, ENST00000700437.1, ENST00000700468.1, ENST00000700306.1 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 )
PSEN1 p.Thr116Ile (p.T116I) ( 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 )
PSEN1 p.Met233Thr (p.M233T) ( ENST00000324501.10, ENST00000357710.8, 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, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- Several causative mutations were identified and confirmed by Sanger sequencing, including PSEN1 p.M233T responsible for Alzheimer's disease in a large Italian family, as well as SOD1 p.A4V and p.I113T in patients with amyotrophic lateral sclerosis.
- Pubmed
- 25174650
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2014
Drugs