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| ASPsiRNA information |
siRNA Id: | aspsirna0654
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siRNA Name: | SiRNA-A15
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GGAUGAGCCGACGGAAGGA
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ASP-siRNA (As strand 3'->5'): | GGAUAAGCCGACGGAAGGA
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|
Mismatch position in siRNA: | A15G |
| Gene Information |
Gene Name | Potasium channel voltage-gated subfamily h member 2(KCNH2) |
|
Target Sequence (5'->3'): | ACTCGGCTGCCTTCCTGCTGAAGGAGACGG
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Wild allele (5'->3'): | CCUACUCGGCUGCCUUCCU
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Mutant allele (5'->3'): | CCUAUUCGGCUGCCUUCCU
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Position of siRNA on target gene: | 1678-1696
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001204798.1 |
| Cytogenic location: | 7q36.1 |
| Chromosomal coordinates: | 7:150,642,043-150,675,401 |
| UniProt ID: | Q12809 |
| HUGO ID: | 6251 |
|
Reference SNp(RefSNP): | rs12191250 |
| Disease/Mutation information |
Target Mutation: | c.1682C>T ,p.Ala561Val
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_008916.1:g.31216C>T
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Pathogenic status of mutation: | Pathogenic
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Disease: | Long QT Syndrome (LQTS) |
| Clinical Resources |
ClinVar ID: | 14420 |
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KEGG disease ID: | H00720 |
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OMIM ID: | 152427 |
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COSMIC: | KCNH2 |
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DECIPHER: | KCNH2 |
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GeneTests: | KCNH2 |
| ASP siRNA details |
Mutant allele (5'->3'): | CCUAUUCGGCUGCCUUCCU
|
|
ASP-siRNA (As strand 3'->5'): | GGAUAAGCCGACGGAAGGA
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 62
|
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Wild allele (5'->3'): | CCUACUCGGCUGCCUUCCU
|
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ASP-siRNA (As strand 3'->5'): | GGAUAAGCCGACGGAAGGA
|
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Percentage efficacy of ASP-siRNA for wild allele: | 15
|
|
Relative difference: | 47
|
| Wild siRNA details |
Wild allele (5'->3'): | CCUACUCGGCUGCCUUCCU
|
|
Wild siRNA (As strand 3'->5'): | GGAUGAGCCGACGGAAGGA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | CCUACUCGGCUGCCUUCCU
|
|
ASP-siRNA (As strand 3'->5'): | GGAUAAGCCGACGGAAGGA
|
|
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: | cardiomyocytes |
| Experimental technique used: | RT-PCR, Flourescence microscopy |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 72 hours |
| Concentration used: | 20microM |
| Reference: | 23470493 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes |
'| Authors: | Matsa E, Dixon JE, Medway C, Georgiou O, Patel MJ, Morgan K, Kemp PJ, Staniforth A, Mellor I, Denning C |
'| Journal Reference: | Eur Heart J. 2014 Apr;35(16):1078-87. doi: 10.1093/eurheartj/eht067. Epub 2013 Mar 6 |
'
