rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases.
|
18951903 |
2009 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.
|
7887412 |
1995 |
rs121912443
|
|
|
0.890 |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
In order to get a better insight into the mechanism(s) underlying the FALS phenotype, we have investigated the activity and the copper binding properties of the single mutant H46R, which is associated with a Japanese form of FALS.
|
7805862 |
1994 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes.
|
14506936 |
2003 |
rs121912443
|
|
|
0.890 |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.
|
8446170 |
1993 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives.
|
16324086 |
2005 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.
|
8351519 |
1993 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.
|
18378676 |
2008 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The His46Arg (H46R) mutant of human copper-zinc superoxide dismutase (SOD1) is associated with an unusual, slowly progressing form of familial amyotrophic lateral sclerosis (FALS).
|
15840828 |
2005 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.
|
8528216 |
1995 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
In a recent work, we have observed that calcineurin activity is depressed in two models for familial amyotrophic lateral sclerosis (FALS) associated with mutations of the antioxidant enzyme Cu,Zn superoxide dismutase (SOD1), namely in neuroblastoma cells expressing either SOD1 mutant G93A or mutant H46R and in brain areas from G93A transgenic mice.
|
11701756 |
2001 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
"""True"" sporadic ALS associated with a novel SOD-1 mutation."
|
12402272 |
2002 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.
|
7881433 |
1994 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Copper(2+) binding to the surface residue cysteine 111 of His46Arg human copper-zinc superoxide dismutase, a familial amyotrophic lateral sclerosis mutant.
|
10889018 |
2000 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
"Hereditary motor neuron disease in a large Norwegian family with a ""H46R"" substitution in the superoxide dismutase 1 gene."
|
22475618 |
2012 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
|
7870076 |
1994 |
rs121912443
|
|
|
0.890 |
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 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.
|
15056757 |
2004 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
UNIPROT |
EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force.
|
21914052 |
2012 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
|
25025039 |
2014 |
rs121912443
|
|
|
0.890 |
GeneticVariation |
BEFREE |
Most of the "metal binding region" FALS mutants (H46R, G85R, D124V, D125H, and S134N) exhibited transitions that probably resulted from unfolding of metal-free species at approximately 4-12 degrees C below the observed melting of the least stable WT species.
|
11854285 |
2002 |
rs121912443
|
|
G |
0.890 |
CausalMutation |
CLINVAR |
Mild ALS in Japan associated with novel SOD mutation.
|
8298637 |
1993 |