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| ASPsiRNA information |
siRNA Id: | aspsirna2169
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siRNA Name: | K12-Leu140Arg-9
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UACGUUUUAGUAUUACUAU
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ASP-siRNA (As strand 3'->5'): | UACGUUUUAGGAUUACUAU
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|
Mismatch position in siRNA: | G9U |
| Gene Information |
Gene Name | Keratin 12 (KRT12) |
|
Target Sequence (5'->3'): | CCTAATGATAGATTAGCTTCCTACCTGG
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Wild allele (5'->3'): | AUGCAAAAUCAUAAUGAUA
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Mutant allele (5'->3'): | AUGCAAAAUCCUAAUGAUA
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Position of siRNA on target gene: | 402-429
|
| 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): | rs58918655 |
| Disease/Mutation information |
Target Mutation: | c.419T>G,p.Leu140Arg
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Matation type/variant: | single nucleotide variant/missense variant
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Mutation at gene level: | NG_008077.1:g.5443T>G
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Pathogenic status of mutation: | Pathogenic
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Disease: | Meesmann epithelial corneal Dystrophy (MECD) |
| Clinical Resources |
ClinVar ID: | 7926 |
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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'): | AUGCAAAAUCCUAAUGAUA
|
|
ASP-siRNA (As strand 3'->5'): | UACGUUUUAGGAUUACUAU
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 89
|
|
Wild allele (5'->3'): | AUGCAAAAUCAUAAUGAUA
|
|
ASP-siRNA (As strand 3'->5'): | UACGUUUUAGGAUUACUAU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 8
|
|
Relative difference: | 81
|
| Wild siRNA details |
Wild allele (5'->3'): | AUGCAAAAUCAUAAUGAUA
|
|
Wild siRNA (As strand 3'->5'): | UACGUUUUAGUAUUACUAU
|
|
Percentage efficacy of wild siRNA for wild allele: | 45
|
|
Wild allele (5'->3'): | AUGCAAAAUCAUAAUGAUA
|
|
ASP-siRNA (As strand 3'->5'): | UACGUUUUAGGAUUACUAU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 60
|
|
Relative difference : | -15
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | AD293 |
| Experimental technique used: | Western blot |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 24/48/72hours |
| Concentration used: | 5nM |
| Reference: | 24801514 |
| Delivery method: | Lentiviral vector delivery |
'| Article title: | siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy |
'| Authors: | Courtney DG, Atkinson SD, Allen EH, Moore JE, Walsh CP, Pedrioli DM, MacEwen CJ, Pellegrini G, Maurizi E, Serafini C, Fantacci M, Liao H, Irvine AD, McLean WH, Moore CB. |
'| Journal Reference: | Invest Ophthalmol Vis Sci. 2014 May 6;55(5):3352-60. doi: 10.1167/iovs.13-12957 |
'
