| | |
ASPsiRNA information |
siRNA Id: | aspsirna0347
|
siRNA Name: | ShAtaxMUT (C)
|
Mismatch information |
Wild siRNA (As strand 3'->5'): | UCGUCGUCCCCCUGGAUAG
|
ASP-siRNA (As strand 3'->5'): | UCGUCGUCGCCCUGGAUAG
|
Mismatch position in siRNA: | G11C |
Gene Information |
Gene Name | Ataxin-3 (ATXN3) |
Target Sequence (5'->3'): | GCAGCAGCAGCAGCAGCAGCAGGGGGACCUAUC
|
Wild allele (5'->3'): | AGCAGCAGGGGGACCUAUC
|
Mutant allele (5'->3'): | AGCAGCAGCGGGACCUAUC
|
Position of siRNA on target gene: | 977-995
|
Respective Gene/Protein Resources |
GenBank Accession: | NM_004993.5 |
Cytogenic location: | 14q32.12 |
Chromosomal coordinates: | 14:92,524,895-92,572,964 |
UniProt ID: | P54252 |
HUGO ID: | 7106 |
Reference SNp(RefSNP): | rs19392292 |
Disease/Mutation information |
Target Mutation: | c.892_894CAG(8_36) (p.Gln298_Gln305=),c.987G>C
|
Matation type/variant: | Microsatellite/Single nucleotide variant/Missense variant
|
Mutation at gene level: | NG_008198.2:g.40588_40590CAG(8_36)
|
Pathogenic status of mutation: | Pathogenic
|
Disease: | Machado-Joseph disease (MJD)/Spinocerebellar ataxia type 3 (SCA3) |
Clinical Resources |
ClinVar ID: | 3551 |
KEGG disease ID: | H00063 |
OMIM ID: | 109150 |
COSMIC: | ATXN3 |
DECIPHER: | ATXN3 |
GeneTests: | ATXN3 |
ASP siRNA details |
Mutant allele (5'->3'): | AGCAGCAGCGGGACCUAUC
|
ASP-siRNA (As strand 3'->5'): | UCGUCGUCGCCCUGGAUAG
|
Percentage efficacy of ASP-siRNA for mutant allele: | 16
|
Wild allele (5'->3'): | AGCAGCAGGGGGACCUAUC
|
ASP-siRNA (As strand 3'->5'): | UCGUCGUCGCCCUGGAUAG
|
Percentage efficacy of ASP-siRNA for wild allele: | 0
|
Relative difference: | 16
|
Wild siRNA details |
Wild allele (5'->3'): | AGCAGCAGGGGGACCUAUC
|
Wild siRNA (As strand 3'->5'): | UCGUCGUCCCCCUGGAUAG
|
Percentage efficacy of wild siRNA for wild allele: | 17
|
Wild allele (5'->3'): | AGCAGCAGGGGGACCUAUC
|
ASP-siRNA (As strand 3'->5'): | UCGUCGUCGCCCUGGAUAG
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
Relative difference : | -3
|
General information |
Mismatch incorporated in siRNA/Target: | siRNA |
Cell-line used: | 293T |
Experimental technique used: | Western blot, RT-PCR |
Transfection method: | CaPO4 mediated transfection |
siRNA expression method: | Chemically synthesized |
Post-transfection duration: | 48 hours |
Concentration used: | 5mg |
Reference: | 18841197 |
Delivery method: | Transfection |
'Article title: | Allele-Specific RNA Silencing of Mutant Ataxin-3 Mediates Neuroprotection in a Rat Model of Machado-Joseph Disease |
'Authors: | Alves S, Nascimento-Ferreira I, Auregan G, Hassig R, Dufour N, Brouillet E, Pedroso de Lima MC, Hantraye P, Pereira de Almeida L, Déglon N |
'Journal Reference: | PLoS One. 2008 Oct 8;3(10):e3341. doi: 10.1371/journal.pone.0003341 |
'