IthaID: 371
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
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Common Name: | CD 39 (-ACC) [-Thr] | HGVS Name: | HBA1:c.118_120del |
Hb Name: | Hb Taybe | Protein Info: | α1 39(C4) Thr->0 |
Context nucleotide sequence:
CAGGATGTTCCTGTCCTTCCCCACC [ACC/-] AAGACCTACTTCCCGCACTTCGACC (Strand: +)
Also known as:
Comments: This deletion results in a structural abnormality that affects the α1β2 contact and the α1β1 interface, producing a highly unstable Hb. Moderate to severe haemolytic anaemia in the homozygote or compound heterozygote state. Normal clinical phenotype in the heterozygote state.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
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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: | 37814 |
Size: | 3 bp |
Located at: | α1 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Deletion) |
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Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
Ethnic Origin: | Arabian, Israeli |
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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Frequencies
Publications / Origin
- Pobedimskaya DD, Molchanova TP, Streichman S, Huisman TH, Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia., American journal of hematology, 47(3), 198-202, 1994 PubMed
- Galacteros F, Girodon E, M'Rad A, Martin J, Goossens M, Jaber L, Cohen IJ, Tamary H, Goshen Y, Zaizov R, Hb Taybe (alpha 38 or 39 THR deleted): an alpha-globin defect, silent in the heterozygous state and producing severe hemolytic anemia in the homozygous., C. R. Acad. Sci. III, Sci. Vie , 317(5), 437-44, 1994 PubMed
- Ben-Bassat I, Simjanovska L, Jaber L, Efremov GD, HB Taybe: description of genetics and laboratory findings in an Israeli Arab family., Hemoglobin , 22(2), 161-6, 1998 PubMed
- Juul MB, Vestergaard H, Petersen J, Frederiksen H, Thrombosis in Hb Taybe [codons 38/39 (-ACC) (α1)]., Hemoglobin , 36(6), 600-4, 2012 PubMed
- 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
- Koren A, Levin C, Zalman L, Palmor H, Filon D, Chubar E, Resnitzky P, Bennett M, Hb TAYBE: clinical and morphological findings IN 43 patients., Eur. J. Haematol. , 97(2), 137-44, 2016 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-02 09:46:16 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
2 | 2014-03-12 13:25:40 | The IthaGenes Curation Team | Reviewed. |
3 | 2015-06-16 16:27:07 | The IthaGenes Curation Team | Reviewed. New article added. |
4 | 2016-08-30 18:13:31 | The IthaGenes Curation Team | Reviewed. Update of comment section and structural Hb features (U box is checked). Confirmed by sequence. Reference added. |
5 | 2018-01-16 19:10:56 | The IthaGenes Curation Team | Reviewed. Mutation comment added. Reference added. Other details section updated. |
6 | 2021-04-02 09:46:16 | The IthaGenes Curation Team | Reviewed. HGVS, common and protein names corrected |
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IthaGenes was last updated on 2024-09-28 12:00:32