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| ASPsiRNA information |
siRNA Id: | aspsirna2189
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|
siRNA Name: | 11A–16A
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCCUCUUCGGCCUCUAGGA
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ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUUGGA
|
|
Mismatch position in siRNA: | U9CU4A |
| Gene Information |
Gene Name | Collagen type VI alpha 1 (COL6A1) |
|
Target Sequence (5'->3'): | AGGGAGAAGCCGGAGAUCCUGGAA
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Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
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Mutant allele (5'->3'): | GGGAGAAGCCAGAGAACCU
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Position of siRNA on target gene: | 942-960
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001848.2 |
| Cytogenic location: | 21q22.3 |
| Chromosomal coordinates: | 21:47,401,662-47,424,962 |
| UniProt ID: | P12109 |
| HUGO ID: | 2211 |
|
Reference SNp(RefSNP): | rs1219 |
| Disease/Mutation information |
Target Mutation: | c.850G>A, p.G284R
|
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Matation type/variant: | single nucleotide variant/missense variant
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Mutation at gene level: | NG_008674.1:g.12381G>A
|
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Pathogenic status of mutation: | Pathogenic
|
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Disease: | Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM) |
| Clinical Resources |
ClinVar ID: | 17180 |
|
KEGG disease ID: | H01341 |
|
OMIM ID: | 254090 |
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COSMIC: | COL6A1 |
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DECIPHER: | COL6A1 |
|
GeneTests: | COL6A1 |
| ASP siRNA details |
Mutant allele (5'->3'): | GGGAGAAGCCAGAGAACCU
|
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUUGGA
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 77
|
|
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUUGGA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 40
|
|
Relative difference: | 37
|
| Wild siRNA details |
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
|
Wild siRNA (As strand 3'->5'): | CCCUCUUCGGCCUCUAGGA
|
|
Percentage efficacy of wild siRNA for wild allele: | 80
|
|
Wild allele (5'->3'): | GGGAGAAGCCGGAGAUCCU
|
|
ASP-siRNA (As strand 3'->5'): | CCCUCUUCGGUCUCUUGGA
|
|
Percentage efficacy of Wild sirna for mutant allele: | 70
|
|
Relative difference : | 10
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | NIH3T3 |
| Experimental technique used: | RT-PCR |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 24 hours |
| Concentration used: | 80nM |
| Reference: | 24959844 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific Gene Silencing of Mutant mRNA Restores Cellular Function in Ullrich Congenital Muscular Dystrophy Fibroblasts. |
'| Authors: | Noguchi S, Ogawa M, Kawahara G, Malicdan MC, Nishino I. |
'| Journal Reference: | Mol Ther Nucleic Acids. 2014 Jun 24;3:e171. doi: 10.1038/mtna.2014.22 |
'
