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| ASPsiRNA information |
siRNA Id: | aspsirna0349
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siRNA Name: | Si2
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CCAGGUCGACCCUAUGGAC
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ASP-siRNA (As strand 3'->5'): | CAAGGUCGACCCUAUGGAC
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|
Mismatch position in siRNA: | A18C |
| Gene Information |
Gene Name | Collagen, type III, alpha 1 (COL3A1) |
|
Target Sequence (5'->3'): | CCUGGACCUCCAGGUAUCAAAGGUCCAGCUGGGAUACCUGGAU
|
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Wild allele (5'->3'): | GGUCCAGCUGGGAUACCUG
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Mutant allele (5'->3'): | GUUCCAGCUGGGAUACCUG
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|
Position of siRNA on target gene: | 871-889
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000090.3 |
| Cytogenic location: | 2q32.2 |
| Chromosomal coordinates: | 2:189,839,098-189,877,471 |
| UniProt ID: | P02461 |
| HUGO ID: | 2201 |
|
Reference SNp(RefSNP): | rs58777960 |
| Disease/Mutation information |
Target Mutation: | c.764G>T,p.Gly255Val
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Matation type/variant: | Single nucleotide variant/Missense variant
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Mutation at gene level: | NG_007404.1:g.20954G>T
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Pathogenic status of mutation: | Pathogenic
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Disease: | Vascular Ehlers-Danlos Syndrome (vEDs) |
| Clinical Resources |
ClinVar ID: | 101322 |
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KEGG disease ID: | H00802 |
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OMIM ID: | 130050 |
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COSMIC: | COL3A1 |
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DECIPHER: | COL3A1 |
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GeneTests: | COL3A1 |
| ASP siRNA details |
Mutant allele (5'->3'): | GUUCCAGCUGGGAUACCUG
|
|
ASP-siRNA (As strand 3'->5'): | CAAGGUCGACCCUAUGGAC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 50
|
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Wild allele (5'->3'): | GGUCCAGCUGGGAUACCUG
|
|
ASP-siRNA (As strand 3'->5'): | CAAGGUCGACCCUAUGGAC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 58
|
|
Relative difference: | -8
|
| Wild siRNA details |
Wild allele (5'->3'): | GGUCCAGCUGGGAUACCUG
|
|
Wild siRNA (As strand 3'->5'): | CCAGGUCGACCCUAUGGAC
|
|
Percentage efficacy of wild siRNA for wild allele: | 47
|
|
Wild allele (5'->3'): | GGUCCAGCUGGGAUACCUG
|
|
ASP-siRNA (As strand 3'->5'): | CAAGGUCGACCCUAUGGAC
|
|
Percentage efficacy of Wild sirna for mutant allele: | 20
|
|
Relative difference : | 27
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | Fibroblast |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Dharmafect 1 |
| siRNA expression method: | Invitrogen |
| Post-transfection duration: | 48 hours |
| Concentration used: | 100nM |
| Reference: | 22038052 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. |
'| Authors: | Müller GA, Hansen U, Xu Z, Griswold B, Talan MI, McDonnell NB, Briest W. |
'| Journal Reference: | FASEB J. 2012 Feb;26(2):668-77. doi: 10.1096/fj.11-182162. Epub 2011 Oct 28. |
'
