aspsirna2190 details

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ASPsiRNA information siRNA Id:aspsirna2190
siRNA Name: 11A–17G
Mismatch information Wild siRNA (As strand 3'->5'):CCCUCUUCGGCCUCUAGGA
ASP-siRNA (As strand 3'->5'):CCCUCUUCGGUCUCUACGA
Mismatch position in siRNA: U9C,C3G
Gene Information Gene Name Collagen type VI alpha 1 (COL6A1)
Target Sequence (5'->3'):AGGGAGAAGCCGGAGAUCCUGGAA
Wild allele (5'->3'):GGGAGAAGCCGGAGAUCCU
Mutant allele (5'->3'):GGGAGAAGCCAGAGAUGCU
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
Matation type/variant: single nucleotide variant/missense variant
Mutation at gene level: NG_008674.1:g.12381G>A
Pathogenic status of mutation: Pathogenic
Disease:Ullrich congenital muscular dystrophy (UCMD),Bethlem myopathy (BM)
Clinical Resources ClinVar ID:17180
KEGG disease ID:H01341
OMIM ID: 254090
COSMIC: COL6A1
DECIPHER: COL6A1
GeneTests: COL6A1
ASP siRNA details Mutant allele (5'->3'): GGGAGAAGCCAGAGAUGCU
ASP-siRNA (As strand 3'->5'):CCCUCUUCGGUCUCUACGA
Percentage efficacy of ASP-siRNA for mutant allele:60
Wild allele (5'->3'): GGGAGAAGCCGGAGAUCCU
ASP-siRNA (As strand 3'->5'):CCCUCUUCGGUCUCUACGA
Percentage efficacy of ASP-siRNA for wild allele:50
Relative difference:10
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'):CCCUCUUCGGUCUCUACGA
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