| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0010
|
|
siRNA Name: | IWT-Ds
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GGCCACCUCCCUAGCCCCU
|
|
Mismatch position in siRNA: | A7G,C3A |
| Gene Information |
Gene Name | Type 1 ryanodine receptor (RyR1) |
|
Target Sequence (5'->3'): | CCGGTGGAGGGACCGGTGA
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | CCGGUGGAGGGAUCGGGGA
|
|
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: | Central core disease (CCD) |
| 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'): | CCGGUGGAGGGAUCGGGGA
|
|
ASP-siRNA (As strand 3'->5'): | GGCCACCUCCCUAGCCCCU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 40
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GGCCACCUCCCUAGCCCCU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 20
|
|
Relative difference: | 20
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | 40
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GGCCACCUCCCUAGCCCCU
|
|
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: | RT-PCR |
| 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. |
'
