aspsirna1907 details

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ASPsiRNA information siRNA Id:aspsirna1907
siRNA Name: 12
Mismatch information Wild siRNA (As strand 3'->5'):GUGGGAGCCCACUCCCACCCC
ASP-siRNA (As strand 3'->5'):GUGGGAGUCCACUCCCACCCC
Mismatch position in siRNA: U14C
Gene Information Gene Name Myosin Heavy Chain6 (Myh6)
Target Sequence (5'->3'):AAGGGCCUGUGUCACCCUCGGGUGAGGGUGGGGACCGAGUAU
Wild allele (5'->3'):CACCCUCGGGUGAGGGUGGGG
Mutant allele (5'->3'):CACCCUCAGGUGAGGGUGGGG
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
Matation type/variant: single nucleotide variant/Missense variant
Mutation at gene level: NG_023444.1:g.16949G>A
Pathogenic status of mutation: Pathogenic
Disease:Human hypertrophic cardiomyopathy (HCM)
Clinical Resources ClinVar ID:14147
KEGG disease ID:H00292
OMIM ID: 608758
COSMIC: Myh6
DECIPHER: Myh6
GeneTests: Myh6
ASP siRNA details Mutant allele (5'->3'): CACCCUCAGGUGAGGGUGGGG
ASP-siRNA (As strand 3'->5'):GUGGGAGUCCACUCCCACCCC
Percentage efficacy of ASP-siRNA for mutant allele:Moderate efficacy
Wild allele (5'->3'): CACCCUCGGGUGAGGGUGGGG
ASP-siRNA (As strand 3'->5'):GUGGGAGUCCACUCCCACCCC
Percentage efficacy of ASP-siRNA for wild allele:Moderate efficacy
Relative difference:Poor discrimination
Wild siRNA details Wild allele (5'->3'): CACCCUCGGGUGAGGGUGGGG
Wild siRNA (As strand 3'->5'):GUGGGAGCCCACUCCCACCCC
Percentage efficacy of wild siRNA for wild allele:NA
Wild allele (5'->3'): CACCCUCGGGUGAGGGUGGGG
ASP-siRNA (As strand 3'->5'):GUGGGAGUCCACUCCCACCCC
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.