IthaID: 1228
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 124 CCA>CAA | HGVS Name: | HBB:c.374C>A |
| Hb Name: | Hb Ty Gard | Protein Info: | β 124(H2) Pro>Gln |
Context nucleotide sequence:
CATCACTTTGGCAAAGAATTCACCC [C>A] ACCAGTGCAGGCTGCCTATCAGAAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTQPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71948 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French, Indian |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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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Publications / Origin
- Bursaux E, Blouquit Y, Poyart C, Rosa J, Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact., FEBS letters, 88(1), 155-9, 1978 PubMed
- Wahengbam AKGS, Kumari K, Singh RK, Rao VR, Saraswathy KN, Dharajiya K, Das R, Murry B, An Uncommon Variant Hemoglobin: Hb Ty Gard Detected from Gujarat, India., Indian J Hematol Blood Transfus, 35(3), 599-600, 2019 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-08-04 11:35:41 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-01-29 15:20:28 | The IthaGenes Curation Team | Reviewed. Reference added |
| 4 | 2020-01-29 15:26:50 | The IthaGenes Curation Team | Reviewed. Edit |
| 5 | 2023-08-04 11:35:41 | The IthaGenes Curation Team | Reviewed. Context sequence edits |
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IthaGenes was last updated on 2024-11-20 13:24:07