| | |
|---|
| ASPsiRNA information |
siRNA Id: | aspsirna1947
|
|
siRNA Name: | AAT-ASO
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUC
|
|
ASP-siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUU
|
|
Mismatch position in siRNA: | G5C |
| Gene Information |
Gene Name | SERPINA1/Alpha-1 antitrypsin (AAT) |
|
Target Sequence (5'->3'): | NA
|
|
Wild allele (5'->3'): | GACCCCAGGCTCCACCAAG
|
|
Mutant allele (5'->3'): | GACCCCAGGCTCCACCAAA
|
|
Position of siRNA on target gene: | 2191-2211
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001127701.1 |
| Cytogenic location: | 14q32.13 |
| Chromosomal coordinates: | 14:94,843,083-94,857,028 |
| UniProt ID: | P01009 |
| HUGO ID: | NA |
|
Reference SNp(RefSNP): | rs28929474 |
| Disease/Mutation information |
Target Mutation: | c.1096G>A,p.Glu366Lys on M2,Glu342Lys on M1A
|
|
Matation type/variant: | Single nucleotide variant
|
|
Mutation at gene level: | NG_008290.1:g.17083G>A
|
|
Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Emphysema/Alpha-1 antitrypsin deficiency (AATD) |
| Clinical Resources |
ClinVar ID: | NA |
|
KEGG disease ID: | H01103 |
|
OMIM ID: | 613490 |
|
COSMIC: | AAT |
|
DECIPHER: | AAT |
|
GeneTests: | AAT |
| ASP siRNA details |
Mutant allele (5'->3'): | GACCCCAGGCTCCACCAAA
|
|
ASP-siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUU
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 80
|
|
Wild allele (5'->3'): | GACCCCAGGCTCCACCAAG
|
|
ASP-siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUU
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 14
|
|
Relative difference: | 66
|
| Wild siRNA details |
Wild allele (5'->3'): | GACCCCAGGCTCCACCAAG
|
|
Wild siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUC
|
|
Percentage efficacy of wild siRNA for wild allele: | 22
|
|
Wild allele (5'->3'): | GACCCCAGGCTCCACCAAG
|
|
ASP-siRNA (As strand 3'->5'): | CUGGGGUCCGTGGUGGUUU
|
|
Percentage efficacy of Wild sirna for mutant allele: | 9
|
|
Relative difference : | 13
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | PiZ hepatocytes |
| Experimental technique used: | RT-PCR |
| Transfection method: | Electroporation |
| siRNA expression method: | Applied Biosystems |
| Post-transfection duration: | 24 hours |
| Concentration used: | 0.25microM |
| Reference: | 24355919 |
| Delivery method: | Transfection |
'| Article title: | Antisense oligonucleotide treatment ameliorates alpha-1 antitrypsin-related liver disease in mice |
'| Authors: | Guo S, Booten SL, Aghajan M, Hung G, Zhao C, Blomenkamp K, Gattis D, Watt A, Freier SM, Teckman JH, McCaleb ML, Monia BP |
'| Journal Reference: | J Clin Invest. 2014 Jan;124(1):251-61. doi: 10.1172/JCI67968. Epub 2013 Dec 20 |
'
