| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna1972
|
|
siRNA Name: | siRNA-5
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAU
|
|
ASP-siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAG
|
|
Mismatch position in siRNA: | G1U |
| Gene Information |
Gene Name | Collagen type VI alpha 3 (COL6A3) |
|
Target Sequence (5'->3'): | UCGGCAGCAUCGGGCCAAAGGGUAUUC
|
|
Wild allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
Mutant allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
Position of siRNA on target gene: | 4601-4627
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_057166.4 |
| Cytogenic location: | 2q37.3 |
| Chromosomal coordinates: | 2:238,232,654-238,322,849 |
| UniProt ID: | P12111 |
| HUGO ID: | 2213 |
|
Reference SNp(RefSNP): | NA |
| Disease/Mutation information |
Target Mutation: | (IVS16DS plus 1G-A) in intron 16
|
|
Matation type/variant: | Single nucleotide variant
|
|
Mutation at gene level: | NA
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Congenital muscular dystrophy type Ullrich (UCMD) |
| Clinical Resources |
ClinVar ID: | 17152 |
|
KEGG disease ID: | H01341 |
|
OMIM ID: | 254090 |
|
COSMIC: | COL6A3 |
|
DECIPHER: | COL6A3 |
|
GeneTests: | COL6A3 |
| ASP siRNA details |
Mutant allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
ASP-siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAG
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 65
|
|
Wild allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
ASP-siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 35
|
|
Relative difference: | 30
|
| Wild siRNA details |
Wild allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
Wild siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAU
|
|
Percentage efficacy of wild siRNA for wild allele: | 75
|
|
Wild allele (5'->3'): | CCAAAGGGUGAGCGUGGUA
|
|
ASP-siRNA (As strand 3'->5'): | GGUUUCCCACUCGCACCAG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 90
|
|
Relative difference : | -15
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HEK293 |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 48-72 hours |
| Concentration used: | 5nM |
| Reference: | 24518369 |
| Delivery method: | Transfection |
'| Article title: | siRNA-mediated Allele-specific Silencing of a COL6A3 Mutation in a Cellular Model of Dominant Ullrich Muscular Dystrophy. |
'| Authors: | Bolduc V, Zou Y, Ko D, Bönnemann CG. |
'| Journal Reference: | Mol Ther Nucleic Acids. 2014 Feb 11;3:e147. doi: 10.1038/mtna.2013.74 |
'
