aspsirna3069 details

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ASPsiRNA information siRNA Id:aspsirna3069
siRNA Name: TGFBI-Arg124Cys-14
Mismatch information Wild siRNA (As strand 3'->5'):GCCUGGCGUGCCUCUUCGA
ASP-siRNA (As strand 3'->5'):GCCUGACGUGCCUCUUCGA
Mismatch position in siRNA: A14G
Gene Information Gene Name Transforming growth factor beta induced (TGFBI)
Target Sequence (5'->3'):ACUCAGCUGUACACGGACC
Wild allele (5'->3'):CGGACCGCACGGAGAAGCU
Mutant allele (5'->3'):CGGACUGCACGGAGAAGCU
Position of siRNA on target gene: 513-531
Respective Gene/Protein Resources GenBank Accession:NM_000358.2
Cytogenic location:5q31.1
Chromosomal coordinates:5:136,028,894-136,063,817 
UniProt ID:Q15582
HUGO ID:11771
Reference SNp(RefSNP): rs12190921
Disease/Mutation information Target Mutation: c.370C>T,p.Arg124Cys
Matation type/variant: Single nucleotide variant/Missense variant
Mutation at gene level: NG_012646.1:g.22512C>T
Pathogenic status of mutation: Pathogenic
Disease:Lattice corneal dystrophy type I (LCDI)
Clinical Resources ClinVar ID:7868
KEGG disease ID:H00956
OMIM ID: 122200
COSMIC: TGFBI
DECIPHER: TGFBI
GeneTests: TGFBI
ASP siRNA details Mutant allele (5'->3'): CGGACUGCACGGAGAAGCU
ASP-siRNA (As strand 3'->5'):GCCUGACGUGCCUCUUCGA
Percentage efficacy of ASP-siRNA for mutant allele:50
Wild allele (5'->3'): CGGACCGCACGGAGAAGCU
ASP-siRNA (As strand 3'->5'):GCCUGACGUGCCUCUUCGA
Percentage efficacy of ASP-siRNA for wild allele:10
Relative difference:40
Wild siRNA details Wild allele (5'->3'): CGGACCGCACGGAGAAGCU
Wild siRNA (As strand 3'->5'):GCCUGGCGUGCCUCUUCGA
Percentage efficacy of wild siRNA for wild allele:50
Wild allele (5'->3'): CGGACCGCACGGAGAAGCU
ASP-siRNA (As strand 3'->5'):GCCUGACGUGCCUCUUCGA
Percentage efficacy of Wild sirna for mutant allele:45
Relative difference :5
General information Mismatch incorporated in siRNA/Target:siRNA
Cell-line used: LCDI ex vivo model
Experimental technique used: RT-PCR
Transfection method: Lipofectamine 2000
siRNA expression method: MWG Biotech
Post-transfection duration: 72 hours
Concentration used:6.25 nM
Reference:24425855
Delivery method:Transfection
Article title:Development of allele-specific gene-silencing siRNAs for TGFBI Arg124Cys in lattice corneal dystrophy type I
Authors:Courtney DG, Atkinson SD, Moore JE, Maurizi E, Serafini C, Pellegrini G, Black GC, Manson FD, Yam GH, Macewen CJ, Allen EH, McLean WH, Moore CB
Journal Reference:Invest Ophthalmol Vis Sci. 2014 Feb 18;55(2):977-85. doi: 10.1167/iovs.13-13279