aspsirna0039 details

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ASPsiRNA information siRNA Id:aspsirna0039
siRNA Name: IT-1s
Mismatch information Wild siRNA (As strand 3'->5'):CUCCCUAGCCCCUGCUCUA
ASP-siRNA (As strand 3'->5'):CUCCCUGGUCACUGCUCUA
Mismatch position in siRNA: G13A,U11C,A9C
Gene Information Gene Name Type 1 ryanodine receptor (RyR1)
Target Sequence (5'->3'):CCGGTGGAGGGACCGGTGA
Wild allele (5'->3'):GAGGGAUCGGGGACGAGAU
Mutant allele (5'->3'):GAGGGACCAGUGACGAGAU
Position of siRNA on target gene: NA
Respective Gene/Protein Resources GenBank Accession:NM_000540.2
Cytogenic location:19q13.2
Chromosomal coordinates:19:38,924,339-39,078,203
UniProt ID:P21817
HUGO ID:10483
Reference SNp(RefSNP): rs11819217
Disease/Mutation information Target Mutation: c.14693T>C,p.Ile4898Thr
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_008866.1:g.156290T>C
Pathogenic status of mutation: Pathogenic
Disease:Malignanat Hyperthermia (MH)
Clinical Resources ClinVar ID:12975
KEGG disease ID:H00699
OMIM ID: 117000
COSMIC: RyR1
DECIPHER: RyR1
GeneTests: RyR1
ASP siRNA details Mutant allele (5'->3'): GAGGGACCAGUGACGAGAU
ASP-siRNA (As strand 3'->5'):CUCCCUGGUCACUGCUCUA
Percentage efficacy of ASP-siRNA for mutant allele:38
Wild allele (5'->3'): GAGGGAUCGGGGACGAGAU
ASP-siRNA (As strand 3'->5'):CUCCCUGGUCACUGCUCUA
Percentage efficacy of ASP-siRNA for wild allele:20
Relative difference:18
Wild siRNA details Wild allele (5'->3'): GAGGGAUCGGGGACGAGAU
Wild siRNA (As strand 3'->5'):CUCCCUAGCCCCUGCUCUA
Percentage efficacy of wild siRNA for wild allele:40
Wild allele (5'->3'): GAGGGAUCGGGGACGAGAU
ASP-siRNA (As strand 3'->5'):CUCCCUGGUCACUGCUCUA
Percentage efficacy of Wild sirna for mutant allele:19
Relative difference :21
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: HEK293
Experimental technique used: Confocal microscopy
Transfection method: Lipofectamine 2000
siRNA expression method: Dharmacon
Post-transfection duration: 48 hours
Concentration used:200pmol
Reference:23152933
Delivery method:Electroporation
Article title:Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.
Authors:Loy RE1, Lueck JD, Mostajo-Radji MA, Carrell EM, Dirksen RT.
Journal Reference:PLoS One. 2012;7(11):e49757. doi: 10.1371/journal.pone.0049757. Epub 2012 Nov 12.