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| ASPsiRNA information |
siRNA Id: | aspsirna3515
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siRNA Name: | K12-Arg135Thr-7
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| Mismatch information |
Wild siRNA (As strand 3'->5'): | UAGAAUUACUAUCUAAUCG
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ASP-siRNA (As strand 3'->5'): | UAGAAUUACUAUGUAAUCG
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Mismatch position in siRNA: | G7C |
| Gene Information |
Gene Name | Keratin 12 (KRT12) |
|
Target Sequence (5'->3'): | GAAAAAGAAACTATGCAAAATCTTAATGATAG
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Wild allele (5'->3'): | AUCUUAAUGAUAGAUUAGC
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Mutant allele (5'->3'): | AUCUUAAUGAUACAUUAGC
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Position of siRNA on target gene: | 416-434
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000223.3 |
| Cytogenic location: | 17q21.2 |
| Chromosomal coordinates: | 17:39,017,429-39,023,461 |
| UniProt ID: | Q99456 |
| HUGO ID: | 6414 |
|
Reference SNp(RefSNP): | rs57218384 |
| Disease/Mutation information |
Target Mutation: | c.404G>C,p.Arg135Thr
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Matation type/variant: | single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008077.1:g.5428G>C
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Pathogenic status of mutation: | Pathogenic
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Disease: | Meesmann epithelial corneal dystrophy (MECD) |
| Clinical Resources |
ClinVar ID: | 7921 |
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KEGG disease ID: | H00726 |
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OMIM ID: | 122100 |
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COSMIC: | KRT12 |
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DECIPHER: | KRT12 |
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GeneTests: | KRT12 |
| ASP siRNA details |
Mutant allele (5'->3'): | AUCUUAAUGAUACAUUAGC
|
|
ASP-siRNA (As strand 3'->5'): | UAGAAUUACUAUGUAAUCG
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 83
|
|
Wild allele (5'->3'): | AUCUUAAUGAUAGAUUAGC
|
|
ASP-siRNA (As strand 3'->5'): | UAGAAUUACUAUGUAAUCG
|
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Percentage efficacy of ASP-siRNA for wild allele: | 50
|
|
Relative difference: | 33
|
| Wild siRNA details |
Wild allele (5'->3'): | AUCUUAAUGAUAGAUUAGC
|
|
Wild siRNA (As strand 3'->5'): | UAGAAUUACUAUCUAAUCG
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | AUCUUAAUGAUAGAUUAGC
|
|
ASP-siRNA (As strand 3'->5'): | UAGAAUUACUAUGUAAUCG
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
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Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HaCaT |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | MWG Biotech AG |
| Post-transfection duration: | 72 hours |
| Concentration used: | 0.25nM, 5nM |
| Reference: | 23233254 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. |
'| Authors: | Allen EH, Atkinson SD, Liao H, Moore JE, Leslie Pedrioli DM, Smith FJ, McLean WH, Moore CB. |
'| Journal Reference: | Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):494-502. doi: 10.1167/iovs.12-10528. |
'
