IthaID: 255
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 127 CAG>TAG [Gln>STOP] | HGVS Name: | HBB:c.382C>T |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TGGCAAAGAATTCACCCCACCAGTG [C>T] AGGCTGCCTATCAGAAAGTGGTGGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVX
Also known as:
Comments: Creates a premature stop codon at position 127 in the last exon of the β-globin, leading to a truncated protein. Reported in the heterozygous state with marked microcytic chronic hemolytic anemia.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71956 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | English, French Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| 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
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Frequencies
Publications / Origin
- Hall GW, Franklin IM, Sura T, Thein SL, A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype., British journal of haematology, 79(2), 342-4, 1991 PubMed
- Préhu C, Pissard S, Al-Sheikh M, Le Niger C, Bachir D, Galactéros F, Wajcman H, Two French Caucasian families with dominant thalassemia-like phenotypes due to hyper unstable hemoglobin variants: Hb Sainte Seve [codon 118 (-T)] and codon 127 [CAG-->TAG (Gln-->stop])., Hemoglobin, 29(3), 229-33, 2005 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2024-09-10 10:36:00 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2023-08-09 10:10:15 | The IthaGenes Curation Team | Reviewed. Comment added |
| 4 | 2024-09-10 10:36:00 | The IthaGenes Curation Team | Reviewed. Common name and Chromosome location were corrected. ClinVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07