| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna0965
|
|
siRNA Name: | K12-Arg135Thr-18
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | UCUAAUCGAAGGAUGGACC
|
|
ASP-siRNA (As strand 3'->5'): | UGUAAUCGAAGGAUGGACC
|
|
Mismatch position in siRNA: | G18C |
| Gene Information |
Gene Name | Keratin 12 (KRT12) |
|
Target Sequence (5'->3'): | GAAAAAGAAACTATGCAAAATCTTAATGATAG
|
|
Wild allele (5'->3'): | AGAUUAGCUUCCUACCUGG
|
|
Mutant allele (5'->3'): | ACAUUAGCUUCCUACCUGG
|
|
Position of siRNA on target gene: | 427-445
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_000223.3 |
| Cytogenic location: | 17q21.2 |
| Chromosomal coordinates: | 17:39,017,429-39,023,461 |
| UniProt ID: | Q99456 |
| HUGO ID: | 6414 |
|
Reference SNp(RefSNP): | rs57218384 |
| Disease/Mutation information |
Target Mutation: | c.404G>C,p.Arg135Thr
|
|
Matation type/variant: | single nucleotide variant/Missense variant
|
|
Mutation at gene level: | NG_008077.1:g.5428G>C
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Meesmann epithelial corneal dystrophy (MECD) |
| Clinical Resources |
ClinVar ID: | 7921 |
|
KEGG disease ID: | H00726 |
|
OMIM ID: | 122100 |
|
COSMIC: | KRT12 |
|
DECIPHER: | KRT12 |
|
GeneTests: | KRT12 |
| ASP siRNA details |
Mutant allele (5'->3'): | ACAUUAGCUUCCUACCUGG
|
|
ASP-siRNA (As strand 3'->5'): | UGUAAUCGAAGGAUGGACC
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 60
|
|
Wild allele (5'->3'): | AGAUUAGCUUCCUACCUGG
|
|
ASP-siRNA (As strand 3'->5'): | UGUAAUCGAAGGAUGGACC
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 30
|
|
Relative difference: | 30
|
| Wild siRNA details |
Wild allele (5'->3'): | AGAUUAGCUUCCUACCUGG
|
|
Wild siRNA (As strand 3'->5'): | UCUAAUCGAAGGAUGGACC
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | AGAUUAGCUUCCUACCUGG
|
|
ASP-siRNA (As strand 3'->5'): | UGUAAUCGAAGGAUGGACC
|
|
Percentage efficacy of Wild sirna for mutant allele: | NA
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | AD293 |
| Experimental technique used: | Dual luciferase reporter assay |
| Transfection method: | Lipofectamine 2000 |
| siRNA expression method: | MWG Biotech AG |
| Post-transfection duration: | 72 hours |
| Concentration used: | 0.25nM, 5nM |
| Reference: | 23233254 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy. |
'| Authors: | Allen EH, Atkinson SD, Liao H, Moore JE, Leslie Pedrioli DM, Smith FJ, McLean WH, Moore CB. |
'| Journal Reference: | Invest Ophthalmol Vis Sci. 2013 Jan 17;54(1):494-502. doi: 10.1167/iovs.12-10528. |
'
