rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.
|
10400992 |
1999 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease.
|
19483195 |
2009 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
The epidemiology of CuZn-SOD mutations in Germany: a study of 217 families.
|
20309572 |
2010 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
The authors describe a FALS pedigree with the L144F SOD1 mutation in which all cases had respiratory involvement as a first symptom.
|
20562451 |
2011 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Systematically perturbed folding patterns of amyotrophic lateral sclerosis (ALS)-associated SOD1 mutants.
|
15987780 |
2005 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Mutation-dependent polymorphism of Cu,Zn-superoxide dismutase aggregates in the familial form of amyotrophic lateral sclerosis.
|
20404329 |
2010 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.
|
19741096 |
2009 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.
|
7951252 |
1994 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.
|
7496169 |
1995 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
|
8069312 |
1994 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here we used wild-type (WT) SOD and five FALS-related mutants (G37R, H46R, G85R, D90A, and L144F) to show that the metals contribute significantly to the kinetic stability of the protein, with demetalated (apo) SOD showing acid-induced unfolding rates about 60-fold greater than the metalated (holo) protein.
|
15610047 |
2004 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Good practice in the management of amyotrophic lateral sclerosis: clinical guidelines. An evidence-based review with good practice points. EALSC Working Group.
|
17653917 |
2007 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
|
28222900 |
2017 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis of patients with familial and sporadic amyotrophic lateral sclerosis in a Brazilian Research Center.
|
27978769 |
2017 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Genetic analysis and SOD1 mutation screening in Iranian amyotrophic lateral sclerosis patients.
|
23062701 |
2013 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.
|
7836951 |
1994 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).
|
9455977 |
1997 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Familial ALS in Germany: origin of the R115G SOD1 mutation by a founder effect.
|
15258228 |
2004 |
rs1482760341
|
|
AMYOTROPHIC LATERAL SCLEROSIS 1
|
C |
0.820 |
CausalMutation
|
CLINVAR |
Extensive genetics of ALS: a population-based study in Italy.
|
23100398 |
2012 |