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| ASPsiRNA information |
siRNA Id: | aspsirna3559
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siRNA Name: | P10mut
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCUCUGAACCCGUUACACU
|
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ASP-siRNA (As strand 3'->5'): | CCUCUGAACGCGUUACACU
|
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Mismatch position in siRNA: | G10C |
| Gene Information |
Gene Name | Cu,Zn superoxide dismutase (SOD1) |
|
Target Sequence (5'->3'): | GAGAGGCAUGUUGGAGACUUGGGCAAUGUGACUGCUGACAAAG
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Wild allele (5'->3'): | GGAGACUUGGGCAAUGUGA
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Mutant allele (5'->3'): | GGAGACUUGCGCAAUGUGA
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|
Position of siRNA on target gene: | 395-413
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000454.4 |
| Cytogenic location: | 21q22.11 |
| Chromosomal coordinates: | 21:33,031,934-33,041,243 |
| UniProt ID: | P00441 |
| HUGO ID: | 11179 |
|
Reference SNp(RefSNP): | rs12191243 |
| Disease/Mutation information |
Target Mutation: | c.256G>C,p.Gly86Arg
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008689.1:g.12653G>C
|
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Pathogenic status of mutation: | Pathogenic
|
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Disease: | Amyotrophic Lateral Sclerosis (ALS) |
| Clinical Resources |
ClinVar ID: | 14758 |
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KEGG disease ID: | H00058 |
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OMIM ID: | 105400 |
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COSMIC: | SOD1 |
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DECIPHER: | SOD1 |
|
GeneTests: | SOD1 |
| ASP siRNA details |
Mutant allele (5'->3'): | GGAGACUUGCGCAAUGUGA
|
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ASP-siRNA (As strand 3'->5'): | CCUCUGAACGCGUUACACU
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 76
|
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Wild allele (5'->3'): | GGAGACUUGGGCAAUGUGA
|
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ASP-siRNA (As strand 3'->5'): | CCUCUGAACGCGUUACACU
|
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Percentage efficacy of ASP-siRNA for wild allele: | 12
|
|
Relative difference: | 64
|
| Wild siRNA details |
Wild allele (5'->3'): | GGAGACUUGGGCAAUGUGA
|
|
Wild siRNA (As strand 3'->5'): | CCUCUGAACCCGUUACACU
|
|
Percentage efficacy of wild siRNA for wild allele: | Lowest effective
|
|
Wild allele (5'->3'): | GGAGACUUGGGCAAUGUGA
|
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ASP-siRNA (As strand 3'->5'): | CCUCUGAACGCGUUACACU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 93
|
|
Relative difference : | High discrimination
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HeLa |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 100nM |
| Reference: | EP1567539B1 |
| Delivery method: | Hydrodynamic transfection |
'| Article title: | Allele-specific Rna Interference |
'| Authors: | Xu Zuoshang,Zamore Phillip D |
'| Journal Reference: | EP1567539B1 |
'
