IthaID: 2986
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 32 ATG>ACG [Met>Thr] | HGVS Name: | HBA1:c.98T>C |
| Hb Name: | Hb Bridlington | Protein Info: | α1 32(B13) Met>Thr |
Context nucleotide sequence:
CCTCACTCTGCTTCTCCCCGCAGGA [T>C] GTTCCTGTCCTTCCCCACCACCAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERTFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found as a heterozygote with Hb Taybe. Mild instability assumed as a result of a severe hemolytic anaemia phenotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37794 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | British |
| 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
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Publications / Origin
- Hill QA, Farrar L, Lordan J, Gallienne A, Henderson S, A combination of two novel alpha globin variants Hb Bridlington (HBA1) and Hb Taybe (HBA2) resulting in severe hemolysis, pulmonary hypertension, and death., Hematology , 20(1), 50-2, 2015 PubMed
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2016-08-23 16:59:26,
Last reviewed on 2016-09-08 17:23:03 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-23 16:59:26 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-25 09:15:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-30 18:06:15 | The IthaGenes Curation Team | Reviewed. Update of comment section, haemoglobinopathy status, allele phenotype and structural Hb features. Origin and Reference added. |
| 4 | 2016-09-08 17:23:03 | The IthaGenes Curation Team | Reviewed. Clinical phenotype and reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07