aspsirna0173 details

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ASPsiRNA information siRNA Id:aspsirna0173
siRNA Name: K12-L132P-3
Mismatch information Wild siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGAAU
ASP-siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGGAU
Mismatch position in siRNA: G3A
Gene Information Gene Name Keratin 12 (KRT12)
Target Sequence (5'->3'):TCTGGATCAGAAAAAGAAACTATGCAAAATCTTAATGATAGAT
Wild allele (5'->3'):GAAACUAUGCAAAAUCUUA
Mutant allele (5'->3'):GAAACUAUGCAAAAUCCUA
Position of siRNA on target gene: 403-421
Respective Gene/Protein Resources GenBank Accession:NM_000223.3
Cytogenic location:17q21.2
Chromosomal coordinates:17:39,017,429-39,023,461
UniProt ID:Q99456
HUGO ID:6414
Reference SNp(RefSNP): rs58038639
Disease/Mutation information Target Mutation: c.409G>C,p.Ala137Pro
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008077.1:g.5433G>C
Pathogenic status of mutation: Pathogenic
Disease:Meesmann epithelial corneal dystrophy (MECD)
Clinical Resources ClinVar ID:66126
KEGG disease ID:H00726
OMIM ID: 122100
COSMIC: KRT12
DECIPHER: KRT12
GeneTests: KRT12
ASP siRNA details Mutant allele (5'->3'): GAAACUAUGCAAAAUCCUA
ASP-siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGGAU
Percentage efficacy of ASP-siRNA for mutant allele:88
Wild allele (5'->3'): GAAACUAUGCAAAAUCUUA
ASP-siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGGAU
Percentage efficacy of ASP-siRNA for wild allele:65
Relative difference:23
Wild siRNA details Wild allele (5'->3'): GAAACUAUGCAAAAUCUUA
Wild siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGAAU
Percentage efficacy of wild siRNA for wild allele:78
Wild allele (5'->3'): GAAACUAUGCAAAAUCUUA
ASP-siRNA (As strand 3'->5'):CUUUGAUACGUUUUAGGAU
Percentage efficacy of Wild sirna for mutant allele:24
Relative difference :54
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: Ptk2
Experimental technique used: Dual luciferase reporter assay
Transfection method: Lipofectamine 2000
siRNA expression method: MWG Biotech AG
Post-transfection duration: 48 hours
Concentration used:0.01–6.25nM
Reference:22174841
Delivery method:Transfection
Article title:Development of allele-specific therapeutic siRNA in Meesmann epithelial corneal dystrophy.
Authors:Liao H, Irvine AD, Macewen CJ, Weed KH, Porter L, Corden LD, Gibson AB, Moore JE, Smith FJ, McLean WH, Moore CB.
Journal Reference:PLoS One. 2011;6(12):e28582. doi: 10.1371/journal.pone.0028582. Epub 2011 Dec 12.