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
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
- 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
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-08-04 11:35:41 (Show full history)
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