| | |
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| ASPsiRNA information |
siRNA Id: | aspsirna1898
|
|
siRNA Name: | 3
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGCCCAC
|
|
ASP-siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGUCCAC
|
|
Mismatch position in siRNA: | U5C |
| Gene Information |
Gene Name | Myosin Heavy Chain6 (Myh6) |
|
Target Sequence (5'->3'): | AAGGGCCUGUGUCACCCUCGGGUGAGGGUGGGGACCGAGUAU
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|
Wild allele (5'->3'): | GGCCUGUGUCACCCUCGGGUG
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Mutant allele (5'->3'): | GGCCUGUGUCACCCUCAGGUG
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|
Position of siRNA on target gene: | NA
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_002471.3 |
| Cytogenic location: | 14q11.2 |
| Chromosomal coordinates: | 14:23,849,941-23,878,835 |
| UniProt ID: | P33076 |
| HUGO ID: | 7576 |
|
Reference SNp(RefSNP): | rs26760690 |
| Disease/Mutation information |
Target Mutation: | c.2384G>A,p.Arg795Gln
|
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Matation type/variant: | single nucleotide variant/Missense variant
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Mutation at gene level: | NG_023444.1:g.16949G>A
|
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Pathogenic status of mutation: | Pathogenic
|
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Disease: | Human hypertrophic cardiomyopathy (HCM) |
| Clinical Resources |
ClinVar ID: | 14147 |
|
KEGG disease ID: | H00292 |
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OMIM ID: | 608758 |
|
COSMIC: | Myh6 |
|
DECIPHER: | Myh6 |
|
GeneTests: | Myh6 |
| ASP siRNA details |
Mutant allele (5'->3'): | GGCCUGUGUCACCCUCAGGUG
|
|
ASP-siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGUCCAC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | Moderate efficacy
|
|
Wild allele (5'->3'): | GGCCUGUGUCACCCUCGGGUG
|
|
ASP-siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGUCCAC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | Moderate efficacy
|
|
Relative difference: | Poor discrimination
|
| Wild siRNA details |
Wild allele (5'->3'): | GGCCUGUGUCACCCUCGGGUG
|
|
Wild siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGCCCAC
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | GGCCUGUGUCACCCUCGGGUG
|
|
ASP-siRNA (As strand 3'->5'): | CCGGACACAGUGGGAGUCCAC
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | 293T |
| Experimental technique used: | RT-PCR |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | Chemically synthesized |
| Post-transfection duration: | 48 hours |
| Concentration used: | 10nM |
| Reference: | 24092743 |
| Delivery method: | Lentiviral vector delivery |
'| Article title: | Allele-specific silencing of mutant Myh6 transcripts in mice suppresses hypertrophic cardiomyopathy. |
'| Authors: | Jiang J, Wakimoto H, Seidman JG, Seidman CE. |
'| Journal Reference: | Science. 2013 Oct 4;342(6154):111-4. doi: 10.1126/science.1236921. |
'
