| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna0207
|
|
siRNA Name: | si272
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGCCCUCAGCCCUUCCACG
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Microtubule-associated protein tau (MAPT) |
|
Target Sequence (5'->3'): | GUGGCCAGGUGGAAGUAAAAUC
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | CAGCCGGGAGUCGGGAAGGUGC
|
|
Position of siRNA on target gene: | NA
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_016835.4 |
| Cytogenic location: | 17q21.31 |
| Chromosomal coordinates: | 17:43,971,701-44,105,699 |
| UniProt ID: | P10636 |
| HUGO ID: | 6893 |
|
Reference SNp(RefSNP): | rs63750570 |
| Disease/Mutation information |
Target Mutation: | c.1960G>A,p.Val654Met
|
|
Matation type/variant: | Single nucleotide variant/Missense variant
|
|
Mutation at gene level: | NG_007398.1:g.129219G>A
|
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Pathogenic status of mutation: | Disease causing
|
|
Disease: | Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) |
| Clinical Resources |
ClinVar ID: | 14252 |
|
KEGG disease ID: | H00078 |
|
OMIM ID: | 600274 |
|
COSMIC: | MAPT |
|
DECIPHER: | MAPT |
|
GeneTests: | MAPT |
| ASP siRNA details |
Mutant allele (5'->3'): | CAGCCGGGAGUCGGGAAGGUGC
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGCCCUCAGCCCUUCCACG
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 43
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGCCCUCAGCCCUUCCACG
|
|
Percentage efficacy of ASP-siRNA for wild allele: | NA
|
|
Relative difference: | NA
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | 49
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | GUCGGCCCUCAGCCCUUCCACG
|
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
|
Relative difference : | 29
|
| General information |
Mismatch incorporated in siRNA/Target: | nil |
| Cell-line used: | Cos-7 |
| Experimental technique used: | Immunoflourescence |
| Transfection method: | Lipofectamine Plus |
| siRNA expression method: | Integrated DNA Technologies |
| Post-transfection duration: | 24 hours |
| Concentration used: | 2.5mg |
| Reference: | 12782788 |
| Delivery method: | Adenovirus associated shRNA delivery |
'| Article title: | Allele-specific silencing of dominant disease genes. |
'| Authors: | Miller VM, Xia H, Marrs GL, Gouvion CM, Lee G, Davidson BL, Paulson HL. |
'| Journal Reference: | Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7195-200. Epub 2003 Jun 2. |
'
