Variant: rs1169198442 

    present in Gene: SOD1;LOC102724449
    present in Chromosome: 21
    Position on Chromosome: 31659837
    Alleles of this Variant: A/G;T

rs1169198442 in SOD1;LOC102724449 gene and AMYOTROPHIC LATERAL SCLEROSIS 1 PMID 12402272 2002 """True"" sporadic ALS associated with a novel SOD-1 mutation."

PMID 10430435 1999 A SOD1 gene mutation in a patient with slowly progressing familial ALS.

PMID 10400992 1999 Variation in the biochemical/biophysical properties of mutant superoxide dismutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds.

PMID 18378676 2008 Structures of the G85R variant of SOD1 in familial amyotrophic lateral sclerosis.

PMID 15056757 2004 Dimer destabilization in superoxide dismutase may result in disease-causing properties: structures of motor neuron disease mutants.

PMID 12963370 2003 ALS mutants of human superoxide dismutase form fibrous aggregates via framework destabilization.

PMID 7496169 1995 Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis.

PMID 19741096 2009 Mitochondrial ubiquitin ligase MITOL ubiquitinates mutant SOD1 and attenuates mutant SOD1-induced reactive oxygen species generation.

PMID 7870076 1994 Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.

PMID 7887412 1995 Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis.

PMID 7881433 1994 Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn superoxide dismutase-1 gene.

PMID 8069312 1994 Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.

PMID 8351519 1993 Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase.

PMID 8446170 1993 Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis.

PMID 9131652 1997 A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis.

PMID 8528216 1995 Two novel mutations in the gene for copper zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis.

PMID 7836951 1994 Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superoxide dismutase gene: a possible new subtype of familial ALS.

PMID 8907321 1996 A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial amyotrophic lateral sclerosis in Japan.

PMID 7951252 1994 Identification of two novel mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis.

PMID 9455977 1997 Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser).