IthaID: 1498
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | N/A | HGVS Name: | NG_000007.3:g.48194_70985del |
Hb Name: | Hb Kenya | Protein Info: | Aγ-β hybrid (Aγ through 80; β from 87) |
Also known as: HPFH-7, Kenya
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | HPFH γβ fusion |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | Hb F levels [HP:0011904] [OMIM:141749] |
Other details
Type of Mutation: | Fusion |
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Ethnic Origin: | Kenyan, Ugandan, African-American |
Molecular mechanism: | N/A |
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
- Huisman TH, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG, Hemoglobin Kenya, the product of fusion of amd polypeptide chains., Archives of biochemistry and biophysics, 153(2), 850-3, 1972 PubMed
- Kendall AG, Ojwang PJ, Schroeder WA, Huisman TH, Hemoglobin Kenya, the product of a gamma-beta fusion gene: studies of the family., Am. J. Hum. Genet. , 25(5), 548-63, 1973 PubMed
- Nute PE, Wood WG, Stamatoyannopoulos G, Olweny C, Failkow PJ, The Kenya form of hereditary persistence of fetal haemoglobin: structural studies and evidence for homogeneous distribution of haemoglobin F using fluorescent anti-haemoglobin F antibodies., Br. J. Haematol. , 32(1), 55-63, 1976 PubMed
- Wood WG, Clegg JB, Weatherall DJ, Gyde OH, Obeid DA, Tarlow MJ, Brown MJ, Hewitt S, G gamma delta beta thalassaemia and g gamma HPFH (Hb Kenya type): comparison of 2 new cases., J Med Genet, 14(4), 237-44, 1977 PubMed
- Ojwang PJ, Nakatsuji T, Gardiner MB, Reese AL, Gilman JG, Huisman TH, Gene deletion as the molecular basis for the Kenya-G gamma-HPFH condition., Hemoglobin , 7(2), 115-23, 1983 PubMed
- Waye JS, Cai SP, Eng B, Chui DH, Francombe WH, Clinical course and molecular characterization of a compound heterozygote for sickle hemoglobin and hemoglobin Kenya., Am. J. Hematol. , 41(4), 289-91, 1992 PubMed
- Rai DK, Alvelius G, Landin B, Identification of Hb Kenya (Agamma81Leu-beta86Ala) by electrospray mass spectrometry., Hemoglobin , 26(1), 71-5, 2002 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-19 15:34:09 (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 | 2014-05-13 09:13:06 | The IthaGenes Curation Team | Reviewed. Additional reference, ClinVar link and synonyms added. |
4 | 2021-11-25 16:13:43 | The IthaGenes Curation Team | Reviewed. |
5 | 2021-12-01 15:17:56 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy and Reference added. |
6 | 2022-10-19 15:20:51 | The IthaGenes Curation Team | Reviewed. Structural Hb type added. |
7 | 2022-10-19 15:23:35 | The IthaGenes Curation Team | Reviewed. |
8 | 2022-10-19 15:27:48 | The IthaGenes Curation Team | Reviewed. |
9 | 2022-10-19 15:31:51 | The IthaGenes Curation Team | Reviewed. |
10 | 2022-10-19 15:34:09 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-10-30 08:58:42