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| ASPsiRNA information |
siRNA Id: | aspsirna3069
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siRNA Name: | TGFBI-Arg124Cys-14
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | GCCUGGCGUGCCUCUUCGA
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ASP-siRNA (As strand 3'->5'): | GCCUGACGUGCCUCUUCGA
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|
Mismatch position in siRNA: | A14G |
| Gene Information |
Gene Name | Transforming growth factor beta induced (TGFBI) |
|
Target Sequence (5'->3'): | ACUCAGCUGUACACGGACC
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Wild allele (5'->3'): | CGGACCGCACGGAGAAGCU
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Mutant allele (5'->3'): | CGGACUGCACGGAGAAGCU
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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
|
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_012646.1:g.22512C>T
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Pathogenic status of mutation: | Pathogenic
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Disease: | Lattice corneal dystrophy type I (LCDI) |
| Clinical Resources |
ClinVar ID: | 7868 |
|
KEGG disease ID: | H00956 |
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OMIM ID: | 122200 |
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COSMIC: | TGFBI |
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DECIPHER: | TGFBI |
|
GeneTests: | TGFBI |
| ASP siRNA details |
Mutant allele (5'->3'): | CGGACUGCACGGAGAAGCU
|
|
ASP-siRNA (As strand 3'->5'): | GCCUGACGUGCCUCUUCGA
|
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Percentage efficacy of ASP-siRNA for mutant allele: | 50
|
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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 |
'
