IthaID: 669
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 92 CGG>CTG [Arg>Leu] | HGVS Name: | HBA2:c.278G>T |
| Hb Name: | Hb Chesapeake | Protein Info: | α2 92(FG4) Arg>Leu |
Context nucleotide sequence:
AGCGACCTGCACGCGCACAAGCTTC [G/T] GGTGGACCCGGTCAACTTCAAGGTG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLLVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Hb Chesapeake displays high oxygen affinity and presents with erythrocytosis in heterozygous individuals. It affects the amino acids involved in the α1-β2 chains’ contact, and impairs the normal rotational transition from the deoxygenated low-affinity state to the oxygenated high-affinity state, tending to lock the hemoglobin into the high-affinity relaxed state. It has been described in
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34170 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | German, Irish, Japanese, French |
| 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
- Clegg JB, Naughton MA, Weatherball DJ, Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok)., Journal of molecular biology, 19(1), 91-108, 1966 PubMed
- Charache S, Weatherall DJ, Clegg JB, Polycythemia associated with a hemoglobinopathy., J. Clin. Invest. , 45(6), 813-22, 1966 PubMed
- Greer J, Three-dimensional structure of abnormal human haemoglobins Chesapeake and J Capetown., J. Mol. Biol. , 62(1), 241-9, 1971 PubMed
- Gibson QH, Nagel RL, Allosteric transition and ligand binding in hemoglobin Chesapeake., J. Biol. Chem. , 249(22), 7255-9, 1974 PubMed
- Imai K, Hemoglobin Chesapeake (92 alpha, arginine--leucine). Precise measurements and analyses of oxygen equilibrium., J. Biol. Chem. , 249(23), 7607-12, 1974 PubMed
- Jones CM, Charache S, Hathaway PJ, The effect of hemoglobin F-Chesapeake (alpha 2 92 Arg. leads to Leu gamma 2) on fetal oxygen affinity and erythropoiesis., Pediatr. Res. , 13(7), 851-3, 1979 PubMed
- Harano T, Harano K, Shibata S, Ueda S, Mori H, Imai K, Hb Chesapeake [alpha 92 (FG 4) Arg replaced by Leu] and Hb J Cape Town [alpha 92 (FG 4) Arg leads to Gln] first discovered in Japanese., Hemoglobin , 7(5), 461-5, 1983 PubMed
- Granel B, Serratrice J, Badens C, Lena-Russo D, Disdier P, Weiller PJ, A new case of hemoglobin Chesapeake., Haematologica , 86(1), 105, 2001 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2023-11-08 15:23:11 (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 | 2014-04-14 11:51:29 | The IthaGenes Curation Team | Reviewed. Added references, common name, allele phenotype and ClinVar link. |
| 4 | 2015-08-07 11:39:08 | The IthaGenes Curation Team | Reviewed. Common name corrected |
| 5 | 2021-04-07 12:11:22 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Origin added. |
| 6 | 2023-11-08 15:23:11 | The IthaGenes Curation Team | Reviewed. Comment |
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IthaGenes was last updated on 2024-11-20 13:24:07