Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His44Arg (p.H44R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His44Arg (p.H44R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- AMYOTROPHIC LATERAL SCLEROSIS 1
- Source Database
- DisGeNET
- Description
- In this study, we have carried out a 20 ns molecular dynamics simulation for wild type (WT), H43R and W32F mutated SOD1's dimer and compared their structure and conformational properties by extracting several quantitative properties from the trajectory to understand the pathology of fALS disease.
- Pubmed
- 24369116
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.52
- Year of publication
- 2013
Drugs