IthaID: 1021
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 67 GTG>ATG [Val>Met] | HGVS Name: | HBB:c.202G>A |
| Hb Name: | Hb Alesha | Protein Info: | β 67(E11) Val>Met |
Context nucleotide sequence:
TAAGGTGAAGGCTCATGGCAAGAAA [A/G] TGCTCGGTGCCTTTAGTGATGGCCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKMLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb Bristol-Alesha
Comments: Valine changes to a methionyl residue at position β67(E11). This Hb is also called Hb Bristol since in a fraction of the variant the methionine is modified into an aspartic acid by a posttranslational modification. This replacement disrupts the apolar bonds between the valine and the heme group, producing an unstable Hb and severe hemolysis.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Thalassaemia dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70926 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Russian, mixed Indian European |
| Molecular mechanism: | Altered heme pocket |
| 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
- Molchanova TP, Postnikov YuV , Pobedimskaya DD, Smetanina NS, Moschan AA, Kazanetz EG, Tokarev YuN , Huisman TH, Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA., Hemoglobin, 17(3), 217-25, 1993 PubMed
- Kano G, Morimoto A, Hibi S, Tokuda C, Todo S, Sugimoto T, Harano T, Miyazaki A, Shimizu A, Imashuku S, Hb Bristol-Alesha presenting thalassemia-type hyperunstable hemoglobinopathy., International journal of hematology, 80(5), 410-5, 2004 PubMed
- Eberle SE, Noguera NI, Sciuccati G, Bonduel M, Díaz L, Staciuk R, Targovnik HM, Feliu-Torres A, Hb Alesha [beta67(E11)Val-->Met, GTG-->ATG] in an Argentinean girl., Hemoglobin, 31(3), 379-82, 2007 PubMed
- Pedroso GA, Kimura EM, Santos MNN, Albuquerque DM, Ferruzzi JLH, Jorge SE, Costa FF, Saad STO, Sonati MF, Coinheritance of Hb Bristol-Alesha [β67(E11)Val→Met; HBB: c.202G>A] and the α212 Patchwork Allele in a Brazilian Child with Severe Congenital Hemolytic Anemia., Hemoglobin , 41(3), 203-208, 2017 PubMed
- Hamid M, Zargan Nezhad E, Galehdari H, Saberi A, Shariati G, Sedaghat A, A First Report of Hb Alesha [β67(E11)Val>Met, GTG>ATG] in an Iranian Patient., Iran Biomed J, 23(6), 429-31, 2019 PubMed
- Zhang Q, Shi HC, Liu N, [Hb Alesha of unstable hemoglobinopathy: a case report and literature review]., Zhonghua Xue Ye Xue Za Zhi, 42(2), 158-160, 2021 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-03-22 11:40:04 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-08-22 11:13:55 | The IthaGenes Curation Team | Reviewed. Common name corrected. |
| 4 | 2017-12-13 18:07:06 | The IthaGenes Curation Team | Reviewed. Other details section updated. Reference added. |
| 5 | 2023-03-21 16:15:18 | The IthaGenes Curation Team | Reviewed. Link added |
| 6 | 2023-03-22 11:40:04 | The IthaGenes Curation Team | Reviewed. References and Comment added. |
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IthaGenes was last updated on 2023-03-22 16:46:31