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.Ala315Thr (p.A315T) ( ENST00000240185.8, ENST00000700088.1, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- Careful comparison of the wild-type TDP-43 (Wt) and the three mutant TDP-43 peptides: an ALS-related mutant peptide: phosphorylated A315T mutant TDP-43 (A315T(p)) and two model peptides: A315T mutant TDP-43 (A315T), A315E mutant TDP-43 (A315E) reveals that A315T(p) has a longer core region of the β-domain than Wt.
- Pubmed
- 23138004
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.379801509465824
- Year of publication
- 2013
Drugs