chr21:33036170:A>G Detail (hg19) (SOD1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:33,036,170-33,036,170 |
| hg38 | chr21:31,663,857-31,663,857 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000454.4:c.140A>G | NP_000445.1:p.His47Arg |
| Ensemble | ENST00000270142.11:c.140A>G | ENST00000270142.11:p.His47Arg |
| ENST00000389995.4:c.83A>G | ENST00000389995.4:p.His28Arg |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 1 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
amyotrophic lateral sclerosis |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2024-01-22 | criteria provided, multiple submitters, no conflicts | amyotrophic lateral sclerosis type 1 |
de novo
germline
|
Detail |
|
Pathogenic
|
2021-01-18 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-01-01 | criteria provided, single submitter | amyotrophic lateral sclerosis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 | NA | CLINVAR | Detail | |
| 0.007 | Central neuroblastoma | In a recent work, we have observed that calcineurin activity is depressed in two... | BeFree | 11701756 | Detail |
| 0.007 | neuroblastoma | In a recent work, we have observed that calcineurin activity is depressed in two... | BeFree | 11701756 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | In a recent work, we have observed that calcineurin activity is depressed in two... | BeFree | 11701756 | Detail |
| 0.007 | neuroblastoma | To understand better the role of these mutations in the pathophysiology of FALS ... | BeFree | 17979159 | Detail |
| 0.007 | Central neuroblastoma | To understand better the role of these mutations in the pathophysiology of FALS ... | BeFree | 17979159 | Detail |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | To clarify the biological significance of the interaction of the redox system (P... | BeFree | 14648077 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | To clarify the biological significance of the interaction of the redox system (P... | BeFree | 14648077 | Detail |
| 0.438 | amyotrophic lateral sclerosis | In this study, we revealed that activated microglia aggregated in the lumbar spi... | BeFree | 20648658 | Detail |
| 0.022 | Neurodegenerative Disorders | In the light of the possibility that different SOD1 entities could be expressed ... | BeFree | 17987632 | Detail |
| 0.001 | Paresis | Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxid... | BeFree | 17549011 | Detail |
| 0.007 | neuroblastoma | In the light of the possibility that different SOD1 entities could be expressed ... | BeFree | 17987632 | Detail |
| 0.164 | motor neuron disease | We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formatio... | BeFree | 25762155 | Detail |
| <0.001 | Familial Motor Neuron Disease | Hereditary motor neuron disease in a large Norwegian family with a H46R substitu... | BeFree | 22475618 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Here, we examined patients with amyotrophic lateral sclerosis (ALS) and mutant (... | BeFree | 20435320 | Detail |
| 0.007 | Central neuroblastoma | In the light of the possibility that different SOD1 entities could be expressed ... | BeFree | 17987632 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | We have investigated the response to oxidative stress in a model system obtained... | BeFree | 10461909 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxid... | BeFree | 15465081 | Detail |
| 0.438 | amyotrophic lateral sclerosis | In the light of the possibility that different SOD1 entities could be expressed ... | BeFree | 17987632 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Clinical features and neuropathological findings of familial amyotrophic lateral... | BeFree | 11997070 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutat... | BeFree | 7836951 | Detail |
| 0.122 | amyotrophic lateral sclerosis | Loss of glial fibrillary acidic protein marginally accelerates disease progressi... | BeFree | 21453731 | Detail |
| 0.438 | amyotrophic lateral sclerosis | To investigate whether oxidized galectin-1 has a beneficial effect on ALS, oxidi... | BeFree | 15899257 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Loss of glial fibrillary acidic protein marginally accelerates disease progressi... | BeFree | 21453731 | Detail |
| 0.007 | neuroblastoma | We have investigated the response to oxidative stress in a model system obtained... | BeFree | 10461909 | Detail |
| 0.007 | Central neuroblastoma | We have investigated the response to oxidative stress in a model system obtained... | BeFree | 10461909 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutat... | BeFree | 7836951 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Clinical and pathological studies of familial amyotrophic lateral sclerosis (FAL... | BeFree | 14517684 | Detail |
| 0.164 | motor neuron disease | To address this issue, we here investigate whether absence of GFAP affects the p... | BeFree | 21453731 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | To identify the conversion of SOD1 from a normally soluble form to insoluble agg... | BeFree | 16563356 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutan... | BeFree | 15840828 | Detail |
| 0.438 | amyotrophic lateral sclerosis | Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, ... | BeFree | 7805862 | Detail |
| 0.520 | AMYOTROPHIC LATERAL SCLEROSIS 1 | Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxid... | BeFree | 17549011 | Detail |
| 0.121 | Muscle Weakness | Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxid... | BeFree | 17549011 | Detail |
| 0.164 | motor neuron disease | Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene. | BeFree | 17549011 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000454.5(SOD1):c.140A>G (p.His47Arg) AND Amyotrophic lateral sclerosis type 1 | ClinVar | Detail |
| NM_000454.5(SOD1):c.140A>G (p.His47Arg) AND not provided | ClinVar | Detail |
| NM_000454.5(SOD1):c.140A>G (p.His47Arg) AND Amyotrophic lateral sclerosis | ClinVar | Detail |
| To learn more about metals in ALS, we determined the metallation states of human wild-type or mutant... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In a recent work, we have observed that calcineurin activity is depressed in two models for familial... | DisGeNET | Detail |
| In a recent work, we have observed that calcineurin activity is depressed in two models for familial... | DisGeNET | Detail |
| In a recent work, we have observed that calcineurin activity is depressed in two models for familial... | DisGeNET | Detail |
| To understand better the role of these mutations in the pathophysiology of FALS we have compared the... | DisGeNET | Detail |
| To understand better the role of these mutations in the pathophysiology of FALS we have compared the... | DisGeNET | Detail |
| To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 ... | DisGeNET | Detail |
| To clarify the biological significance of the interaction of the redox system (Prx2/GPx1) with SOD1 ... | DisGeNET | Detail |
| In this study, we revealed that activated microglia aggregated in the lumbar spinal cord of presympt... | DisGeNET | Detail |
| In the light of the possibility that different SOD1 entities could be expressed also in other neurod... | DisGeNET | Detail |
| Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxide dismutase (SOD1) g... | DisGeNET | Detail |
| In the light of the possibility that different SOD1 entities could be expressed also in other neurod... | DisGeNET | Detail |
| We found that peroxidized Cys111 of H46R SOD1 plays a role in promoting formation of high molecular ... | DisGeNET | Detail |
| Hereditary motor neuron disease in a large Norwegian family with a H46R substitution in the superoxi... | DisGeNET | Detail |
| Here, we examined patients with amyotrophic lateral sclerosis (ALS) and mutant (H46R) SOD1 transgeni... | DisGeNET | Detail |
| In the light of the possibility that different SOD1 entities could be expressed also in other neurod... | DisGeNET | Detail |
| We have investigated the response to oxidative stress in a model system obtained by stable transfect... | DisGeNET | Detail |
| Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenti... | DisGeNET | Detail |
| In the light of the possibility that different SOD1 entities could be expressed also in other neurod... | DisGeNET | Detail |
| Clinical features and neuropathological findings of familial amyotrophic lateral sclerosis with a Hi... | DisGeNET | Detail |
| Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superox... | DisGeNET | Detail |
| Loss of glial fibrillary acidic protein marginally accelerates disease progression in a SOD1(H46R) t... | DisGeNET | Detail |
| To investigate whether oxidized galectin-1 has a beneficial effect on ALS, oxidized recombinant huma... | DisGeNET | Detail |
| Loss of glial fibrillary acidic protein marginally accelerates disease progression in a SOD1(H46R) t... | DisGeNET | Detail |
| We have investigated the response to oxidative stress in a model system obtained by stable transfect... | DisGeNET | Detail |
| We have investigated the response to oxidative stress in a model system obtained by stable transfect... | DisGeNET | Detail |
| Familial amyotrophic lateral sclerosis (ALS) in Japan associated with H46R mutation in Cu/Zn superox... | DisGeNET | Detail |
| Clinical and pathological studies of familial amyotrophic lateral sclerosis (FALS) with SOD1 H46R mu... | DisGeNET | Detail |
| To address this issue, we here investigate whether absence of GFAP affects the phenotypic expression... | DisGeNET | Detail |
| To identify the conversion of SOD1 from a normally soluble form to insoluble aggregates, we investig... | DisGeNET | Detail |
| Structural consequences of the familial amyotrophic lateral sclerosis SOD1 mutant His46Arg. | DisGeNET | Detail |
| Impaired copper binding by the H46R mutant of human Cu,Zn superoxide dismutase, involved in amyotrop... | DisGeNET | Detail |
| Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxide dismutase (SOD1) g... | DisGeNET | Detail |
| Human familial amyotrophic lateral sclerosis with an H46R mutant Cu/Zn superoxide dismutase (SOD1) g... | DisGeNET | Detail |
| Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene. | 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
- rs121912443 dbSNP
- Genome
- hg19
- Position
- chr21:33,036,170-33,036,170
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser