Annotation Detail
Information
- Associated Genes
- DES
- Associated Variants
-
DES p.Leu345Pro (p.L345P)
(
ENST00000373960.4 )
DES p.Leu345Pro (p.L345P) ( ENST00000373960.4 ) - Associated Disease
- myopathy
- Source Database
- DisGeNET
- Description
- We conclude that the L345P desmin missense mutation causes myopathy by interfering in a dominant-negative manner with the dimerization-polymerization process of intermediate filament assembly.
- Pubmed
- 10545598
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0228309118197379
- Year of publication
- 1999
Drugs