Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ile113Thr (p.I113T)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ile114Thr (p.I114T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile113Thr (p.I113T) ( ENST00000270142.11, ENST00000389995.4 )
SOD1 p.Ile114Thr (p.I114T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- A patient is described with a 20 year duration of motor neuron disease, with clinical features of ALS, who was heterozygous for a point mutation ATT to ACT leading to substitution of isoleucine for threonine at codon 113 in exon 4 of SOD-1.
- Pubmed
- 7673954
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.437872511657633
- Year of publication
- 1995
Drugs