IthaID: 3582
Names and Sequences
| Functionality: | Neutral polymorphism | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | IVS II-579 G>C | HGVS Name: | HBB:c.316-272G>C |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTTCCCTAATCTCTTTCTTTCA [G/C] GGCAATAATGATACAATGTATCA (Strand: -)
Comments: This mutation is an innocuous SNP associated with a well-characterised cryptic splice acceptor site in HBB. The cryptic splice acceptor is activated by mutation IthaID 214, leading to aberrant splicing, inclusion of a pseudo-exon in the HBB mRNA and beta-thalassaemia. Mutation IthaID 214 retains residual normal splicing activity, and in presence of the causative mutation this SNP may thus conceivably increase normal splicing and ameliorate the associated phenotype.
Phenotype
| Allele Phenotype: | Neutral |
|---|---|
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71618 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Intron 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Treisman R, Orkin SH, Maniatis T, Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes., Nature, 302(5909), 591-6, 1983 PubMed
Created on 2020-04-08 16:01:57,
Last reviewed on 2020-09-28 16:58:00 (Show full history)
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