aspsirna1946 details

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ASPsiRNA information siRNA Id:aspsirna1946
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: HepG2
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