chr21:31663829:G>A Detail (hg38) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,036,142-33,036,142 View the variant detail on this assembly version. |
| hg38 | chr21:31,663,829-31,663,829 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.112G>A | NP_000445.1:p.Gly38Arg |
| Ensemble | ENST00000270142.11:c.112G>A | ENST00000270142.11:p.Gly38Arg |
| ENST00000389995.4:c.55G>A | ENST00000389995.4:p.Gly19Arg |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2022-06-22 | criteria provided, single submitter | amyotrophic lateral sclerosis type 1 |
germline
|
Detail |
|
Pathogenic
|
2016-08-31 | criteria provided, single submitter | motor neuron disease |
unknown
|
Detail |
|
Pathogenic
|
2022-03-08 | criteria provided, single submitter | not provided |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A5... | BeFree | 17316906 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Blocking gap junction hemichannel significantly suppressed neuronal loss of the ... | BeFree | 21712989 | Detail |
| 0.007 | neuroblastoma | Previously, we reported that overexpression of the mitochondrial antioxidant man... | BeFree | 17394531 | Detail |
| 0.007 | Central neuroblastoma | Previously, we reported that overexpression of the mitochondrial antioxidant man... | BeFree | 17394531 | Detail |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | The G37R, one of the many SOD1 mutations known to be associated to FALS, is diff... | BeFree | 20485746 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Metalation of the amyotrophic lateral sclerosis mutant glycine 37 to arginine su... | BeFree | 17683122 | Detail |
| 0.438 | amyotrophic lateral sclerosis | To investigate the role of neurofilaments in motor neuron disease caused by supe... | BeFree | 9689131 | Detail |
| 0.438 | amyotrophic lateral sclerosis | To learn more about metals in ALS, we determined the metallation states of human... | BeFree | 21068388 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | The G37R copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 ... | BeFree | 17683122 | Detail |
| 0.164 | motor neuron disease | To investigate the role of neurofilaments in motor neuron disease caused by supe... | BeFree | 9689131 | Detail |
| <0.001 | Central neuroblastoma | Previously, we reported that overexpression of the mitochondrial antioxidant man... | BeFree | 17394531 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the super... | BeFree | 12710516 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R... | BeFree | 11181815 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Together, these findings suggest that the mechanism linking mutant G37R SOD1 and... | BeFree | 21388680 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Therapeutic effects of CuII(atsm) in the SOD1-G37R mouse model of amyotrophic la... | BeFree | 23952668 | Detail |
| 0.438 | amyotrophic lateral sclerosis | To further investigate the role of chromogranins in ALS pathogenesis, we generat... | BeFree | 20807312 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | CLINVAR | Detail | |
| 0.121 | amyotrophic lateral sclerosis | Previously, we reported that overexpression of the mitochondrial antioxidant man... | BeFree | 17394531 | Detail |
| 0.007 | neuroblastoma | Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of di... | BeFree | 12067230 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
| 0.438 | amyotrophic lateral sclerosis | To investigate whether high neurofilament (NF) content and large axonal caliber ... | BeFree | 11050249 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Sensorimotor and cognitive functions in a SOD1(G37R) transgenic mouse model of a... | BeFree | 21816178 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
| <0.001 | neuroblastoma | Previously, we reported that overexpression of the mitochondrial antioxidant man... | BeFree | 17394531 | Detail |
| 0.007 | Central neuroblastoma | Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of di... | BeFree | 12067230 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
| <0.001 | retinoblastoma | Pharmacological treatment of SOD1(G37R) mice with minocycline, a compound that a... | BeFree | 12657672 | Detail |
| <0.001 | amyotrophic lateral sclerosis | To further investigate the role of chromogranins in ALS pathogenesis, we generat... | BeFree | 20807312 | Detail |
| 0.164 | motor neuron disease | The establishment of this SOD1-G37R cDNA transgenic model indicates that express... | BeFree | 16046140 | Detail |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demet... | BeFree | 12060716 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants ... | BeFree | 9052802 | Detail |
| <0.001 | amyotrophic lateral sclerosis | After our recent report that a deregulation of Cdk5 activity by p25 may contribu... | BeFree | 12657672 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) AND Motor neuron disease | ClinVar | Detail |
| NM_000454.5(SOD1):c.112G>A (p.Gly38Arg) AND not provided | ClinVar | Detail |
| These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synu... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
| Blocking gap junction hemichannel significantly suppressed neuronal loss of the spinal cord and exte... | DisGeNET | Detail |
| Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide di... | DisGeNET | Detail |
| Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide di... | DisGeNET | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | DisGeNET | Detail |
| The G37R, one of the many SOD1 mutations known to be associated to FALS, is difficult to be reconcil... | DisGeNET | Detail |
| Metalation of the amyotrophic lateral sclerosis mutant glycine 37 to arginine superoxide dismutase (... | DisGeNET | Detail |
| To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SO... | DisGeNET | Detail |
| To learn more about metals in ALS, we determined the metallation states of human wild-type or mutant... | DisGeNET | Detail |
| The G37R copper-zinc superoxide dismutase (SOD1) is one of the many mutant SOD1 proteins known to ca... | DisGeNET | Detail |
| To investigate the role of neurofilaments in motor neuron disease caused by superoxide dismutase (SO... | DisGeNET | Detail |
| Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide di... | DisGeNET | Detail |
| Familial amyotrophic lateral sclerosis with a point mutation (G37R) of the superoxide dismutase 1 ge... | DisGeNET | Detail |
| Transfection of these cell lines with DNA encoding two mutant SOD1 enzymes (G37R and G85R) associate... | DisGeNET | Detail |
| Together, these findings suggest that the mechanism linking mutant G37R SOD1 and ALS involves mitoch... | DisGeNET | Detail |
| Therapeutic effects of CuII(atsm) in the SOD1-G37R mouse model of amyotrophic lateral sclerosis. | DisGeNET | Detail |
| To further investigate the role of chromogranins in ALS pathogenesis, we generated SOD1(G37R) mice t... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide di... | DisGeNET | Detail |
| Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of differentiated neurobl... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
| To investigate whether high neurofilament (NF) content and large axonal caliber are factors that pre... | DisGeNET | Detail |
| Sensorimotor and cognitive functions in a SOD1(G37R) transgenic mouse model of amyotrophic lateral s... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
| Previously, we reported that overexpression of the mitochondrial antioxidant manganese superoxide di... | DisGeNET | Detail |
| Expression of mutant SOD1 (G37R) resulted in a time and dose-related death of differentiated neurobl... | DisGeNET | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
| Pharmacological treatment of SOD1(G37R) mice with minocycline, a compound that attenuates microglios... | DisGeNET | Detail |
| To further investigate the role of chromogranins in ALS pathogenesis, we generated SOD1(G37R) mice t... | DisGeNET | Detail |
| The establishment of this SOD1-G37R cDNA transgenic model indicates that expression of mutant SOD1 p... | DisGeNET | Detail |
| Herein, we demonstrate that the entry of SOD1 into mitochondria depends on demetallation and that he... | DisGeNET | Detail |
| High levels of familial Amyotrophic Lateral Sclerosis (ALS)-linked SOD1 mutants G93A and G37R were p... | DisGeNET | Detail |
| After our recent report that a deregulation of Cdk5 activity by p25 may contribute to pathogenesis o... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs121912431 dbSNP
- Genome
- hg38
- Position
- chr21:31,663,829-31,663,829
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
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