Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. 7887412

1995
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. 8446170

1993
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. 8351519

1993
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis. 18378676

2008
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. 8528216

1995
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT """True"" sporadic ALS associated with a novel SOD-1 mutation." 12402272

2002
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene. 7881433

1994
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. 7870076

1994
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants. 15056757

2004
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. 21914052

2012
dbSNP: rs121912443
rs121912443
SOD1
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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation BEFREE We analyzed mutant superoxide dismutase-1 (SOD-1) in erythrocytes from patients with familial amyotrophic lateral sclerosis (FALS) by using ion exchange chromatography and HPLC/electrospray ionization mass spectrometry and were able to divide mutant SOD-1 proteins into a stable form including G37R and H46R, and an unstable form including I149T and a two base pair deletion mutant. 9425258

1997
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation BEFREE This is the first autopsy report of FALS with a His46Arg mutation in the SOD1 enzyme. 11997070

2002
dbSNP: rs121912443
rs121912443
SOD1
0.890 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
dbSNP: rs121912443
rs121912443
SOD1
0.890 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
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT A SOD1 gene mutation in a patient with slowly progressing familial ALS. 10430435

1999
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation UNIPROT ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization. 12963370

2003
dbSNP: rs121912443
rs121912443
SOD1
0.890 GeneticVariation BEFREE In this study, we confirmed that FALS with SOD1 H46R mutation showed uniform initial symptoms and slow disease progression with intra-familial variation of disease severity and that inclusion body formation is not essential in FALS with this mutation. 14517684

2003