IthaID: 76
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 16 GGC>GGT [Gly>Gly] | HGVS Name: | HBB:c.51C>T |
| Hb Name: | N/A | Protein Info: | β 16 Gly>Gly |
Also known as:
Comments: A synonymous substitution consistently found with altered red cell indices in heterozygous individuals in various families in the absence of other HBB gene variants. Evidence that this variant is not silent. In silico analysis predicted the production of aberrant mRNA splicing as a consequence of a new spice donor (GT) site creation. Functional analysis showed the reduction of β-globin mRNA levels in heterozygous individuals, while further analysis with HBB mini gene constructs confirmed the occurrence of aberrant splicing in the presence of c.51C>T.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | Unclear |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70645 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Frequencies
Publications / Origin
- Nadkarni A, Gorakshakar A, Surve R, Sawant P, Phanasgaonkar S, Nair S, Ghosh K, Colah RB, Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population., Hemoglobin, 33(1), 59-65, 2009 PubMed
- Hunt RC, Kimchi-Sarfaty C, A synonymous variant is unmasked in thalassaemia., Br J Haematol, 2023 PubMed
- Gorivale M, Sawant P, Kargutkar N, Hariharan P, Thaker P, Chiddarwar A, Nadkarni A, When a synonymous mutation breaks the silence in a thalassaemia patient., Br J Haematol, 2023 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2023-11-22 13:10:14 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-06 12:07:05 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-11-22 13:10:14 | The IthaGenes Curation Team | Reviewed. References added, Comment updated |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-11-20 13:24:07