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| ASPsiRNA information |
siRNA Id: | aspsirna0559
|
|
siRNA Name: | siRNA
|
| Mismatch information |
Wild siRNA (As strand 3'->5'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | CGAGAAGAGGAAGAAUUGA
|
|
Mismatch position in siRNA: | NA |
| Gene Information |
Gene Name | Cholinergic receptor, nicotinic, alpha 1 (CHRNA1)(muscle) |
|
Target Sequence (5'->3'): | TCCCCTGCCTGCTCTTCTCCTTCTTAACTGGCCTGGT
|
|
Wild allele (5'->3'): | NA
|
|
Mutant allele (5'->3'): | GCUCUUCUCCUUCUUAACU
|
|
Position of siRNA on target gene: | 882-900
|
| Respective Gene/Protein Resources |
GenBank Accession: | NM_001039523.2 |
| Cytogenic location: | 2q31.1 |
| Chromosomal coordinates: | 2:175,612,319-175,629,199 |
| UniProt ID: | P02708 |
| HUGO ID: | 1955 |
|
Reference SNp(RefSNP): | rs48335304 |
| Disease/Mutation information |
Target Mutation: | c.737C>T,p.Ser271Phe
|
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Matation type/variant: | Single nucleotide variant/Missense variant
|
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Mutation at gene level: | NG_008172.1:g.15929C>T
|
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Pathogenic status of mutation: | Pathogenic
|
|
Disease: | Congenital myasthenic syndrome (SCCMS) |
| Clinical Resources |
ClinVar ID: | 135655 |
|
KEGG disease ID: | H00770 |
|
OMIM ID: | 608931 |
|
COSMIC: | CHRNA1 |
|
DECIPHER: | CHRNA1 |
|
GeneTests: | CHRNA1 |
| ASP siRNA details |
Mutant allele (5'->3'): | GCUCUUCUCCUUCUUAACU
|
|
ASP-siRNA (As strand 3'->5'): | CGAGAAGAGGAAGAAUUGA
|
|
Percentage efficacy of ASP-siRNA for mutant allele: | 34
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | CGAGAAGAGGAAGAAUUGA
|
|
Percentage efficacy of ASP-siRNA for wild allele: | 22
|
|
Relative difference: | 12
|
| Wild siRNA details |
Wild allele (5'->3'): | NA
|
|
Wild siRNA (As strand 3'->5'): | NA
|
|
Percentage efficacy of wild siRNA for wild allele: | NA
|
|
Wild allele (5'->3'): | NA
|
|
ASP-siRNA (As strand 3'->5'): | CGAGAAGAGGAAGAAUUGA
|
|
Percentage efficacy of Wild sirna for mutant allele: | 4
|
|
Relative difference : | NA
|
| General information |
Mismatch incorporated in siRNA/Target: | siRNA |
| Cell-line used: | HEK293 |
| Experimental technique used: | 125 I-a-bungarotoxin binding aSay |
| Transfection method: | Polyethyleneimine |
| siRNA expression method: | Dharmacon |
| Post-transfection duration: | 48 hours |
| Concentration used: | 100pmol |
| Reference: | 12928480 |
| Delivery method: | Transfection |
'| Article title: | Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference. |
'| Authors: | Abdelgany A, Wood M, Beeson D. |
'| Journal Reference: | Hum Mol Genet. 2003 Oct 15;12(20):2637-44. Epub 2003 Aug 19. |
'
