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: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
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.
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
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
- Hunt RC, Kimchi-Sarfaty C, A synonymous variant is unmasked in thalassaemia., Br J Haematol, 2023
- 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
Created on 2010-06-16 16:13:14,
Last reviewed on 2023-11-22 13:10:14 (Show full history)
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