Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Ala315Thr (p.A315T)
(
ENST00000629725.2,
ENST00000649624.1,
ENST00000315091.7,
ENST00000616545.4,
ENST00000639083.1,
ENST00000700088.1,
ENST00000621790.4,
ENST00000240185.8 )
TARDBP p.Gln331Lys (p.Q331K) ( ENST00000649624.1, ENST00000629725.2, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7, ENST00000700088.1, ENST00000621790.4, ENST00000240185.8 )
TARDBP p.Met337Val (p.M337V) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000616545.4, ENST00000639083.1, ENST00000315091.7 )
TARDBP p.Ala315Thr (p.A315T) ( ENST00000240185.8, ENST00000700088.1, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Gln331Lys (p.Q331K) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Met337Val (p.M337V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- ALS/FTLD-associated missense mutant proteins (A315T, Q331K, and M337V) were partially mislocalized to the cytosol and neurites when compared to wild-type and showed abnormal neurites similar to those observed in cases of loss of TDP-43.
- Pubmed
- 23742895
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2013
Drugs