| | |
ASPsiRNA information |
siRNA Id: | aspsirna3133
|
siRNA Name: | YS-Dc
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | GGACGAGAUACUUGAAGAU
|
ASP-siRNA (As strand 3'->5'): | GGACGAGUCGCUUGAAGAU
|
Mismatch position in siRNA: | U12A,C11U,G10A |
Gene Information |
Gene Name | Type 1 ryanodine receptor (RyR1) |
Target Sequence (5'->3'): | TTGTGAACCTGCTCAGCGA
|
Wild allele (5'->3'): | CCUGCUCUAUGAACUUCUA
|
Mutant allele (5'->3'): | CCUGCUCAGCGAACUUCUA
|
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): | rs11819216 |
Disease/Mutation information |
Target Mutation: | c.1565A>C,p.Tyr522Ser
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_008866.1:g.26660A>C
|
Pathogenic status of mutation: | Disease causing
|
Disease: | Malignanat Hyperthermia (MH) |
Clinical Resources |
ClinVar ID: | 12993 |
KEGG disease ID: | H00699 |
OMIM ID: | 117000 |
COSMIC: | RyR1 |
DECIPHER: | RyR1 |
GeneTests: | RyR1 |
ASP siRNA details |
Mutant allele (5'->3'): | CCUGCUCAGCGAACUUCUA
|
ASP-siRNA (As strand 3'->5'): | GGACGAGUCGCUUGAAGAU
|
Percentage efficacy of ASP-siRNA for mutant allele: | 45
|
Wild allele (5'->3'): | CCUGCUCUAUGAACUUCUA
|
ASP-siRNA (As strand 3'->5'): | GGACGAGUCGCUUGAAGAU
|
Percentage efficacy of ASP-siRNA for wild allele: | 20
|
Relative difference: | 25
|
Wild siRNA details |
Wild allele (5'->3'): | CCUGCUCUAUGAACUUCUA
|
Wild siRNA (As strand 3'->5'): | GGACGAGAUACUUGAAGAU
|
Percentage efficacy of wild siRNA for wild allele: | 40
|
Wild allele (5'->3'): | CCUGCUCUAUGAACUUCUA
|
ASP-siRNA (As strand 3'->5'): | GGACGAGUCGCUUGAAGAU
|
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: | Western blot |
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. |
'