Annotation Detail
Information
- Associated Genes
- TARDBP
- Associated Variants
-
TARDBP p.Met337Val (p.M337V)
(
ENST00000621790.4,
ENST00000700088.1,
ENST00000240185.8,
ENST00000629725.2,
ENST00000649624.1,
ENST00000616545.4,
ENST00000639083.1,
ENST00000315091.7 )
TARDBP p.Asn345Lys (p.N345K) ( ENST00000315091.7, ENST00000616545.4, ENST00000639083.1, ENST00000649624.1, ENST00000629725.2, ENST00000240185.8, ENST00000700088.1, ENST00000621790.4 )
TARDBP p.Ile383Val (p.I383V) ( ENST00000621790.4, ENST00000700088.1, ENST00000240185.8, ENST00000629725.2, ENST00000649624.1, ENST00000315091.7, ENST00000616545.4, ENST00000639083.1 )
TARDBP p.Met337Val (p.M337V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Asn345Lys (p.N345K) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 )
TARDBP p.Ile383Val (p.I383V) ( ENST00000700088.1, ENST00000240185.8, ENST00000315091.7, ENST00000616545.4, ENST00000621790.4, ENST00000629725.2, ENST00000639083.1, ENST00000649624.1 ) - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) were identified in the analysis of 92 familial ALS patients (3.3%), while no mutations were detected in 24 patients with sporadic ALS or 180 patients with other TDP-43-positive neurodegenerative diseases.
- Pubmed
- 18802454
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.037694201435698
- Year of publication
- 2008
Drugs