Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912443
rs121912443
G 0.890 CausalMutation CLINVAR Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing. 25025039

2014

dbSNP: rs121912443
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

dbSNP: rs121912443
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

dbSNP: rs121912443
rs121912443
G 0.890 CausalMutation CLINVAR Unfolding and folding kinetics of amyotrophic lateral sclerosis-associated mutant Cu,Zn superoxide dismutases. 18951903

2009

dbSNP: rs121912443
rs121912443
G 0.890 CausalMutation CLINVAR A common property of amyotrophic lateral sclerosis-associated variants: destabilization of the copper/zinc superoxide dismutase electrostatic loop. 19635794

2009

dbSNP: rs121912443
rs121912443
0.890 GeneticVariation UNIPROT Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation. 19741096

2009

dbSNP: rs121912443
rs121912443
G 0.890 CausalMutation CLINVAR Variation in aggregation propensities among ALS-associated variants of SOD1: correlation to human disease. 19483195

2009

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

2008

dbSNP: rs121912443
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

dbSNP: rs121912443
rs121912443
0.890 GeneticVariation BEFREE To understand better the role of these mutations in the pathophysiology of FALS we have compared the pattern of proteins expressed in human neuroblastoma SH-SY5Y cell line with those of cell lines transfected with plasmids expressing the wild-type human SOD1 and the H46R and G93A mutants. 17979159

2007

dbSNP: rs121912443
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

dbSNP: rs121912443
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

dbSNP: rs121912443
rs121912443
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
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

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

2003

dbSNP: rs121912443
rs121912443
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

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

2002

dbSNP: rs121912443
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

dbSNP: rs121912443
rs121912443
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
0.890 GeneticVariation BEFREE We report a new missense mutation (Ala140Gly) in exon 5 of the Cu/Zn superoxide dismutase (SOD-1) gene in a 73-year-old man with familial amyotrophic lateral sclerosis (FALS). 12039658

2002

dbSNP: rs121912443
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

dbSNP: rs121912443
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

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

1999

dbSNP: rs121912443
rs121912443
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