IthaID: 876
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 22 GAA>GCA | HGVS Name: | HBB:c.68A>C |
| Hb Name: | Hb G-Coushatta | Protein Info: | β 22(B4) Glu>Ala |
Context nucleotide sequence:
CTGTGGGGCAAGGTGAACGTGGATG [A/C/G/T] AGTTGGTGGTGAGGCCCTGGGCAGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb G-Hsin Chu, Hb G-Saskatoon, Hb G-Taegu
Comments: Associated with normal clinical presentation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70662 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Algerian, American Indian, Indian, Chinese, Egyptian, Japanese, Korean, Thai, Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 58 | Hb G-Coushatta | β | D-10 | Dual Kit Program | 35 | 2.7 | Homozygous or associated with beta (0) thal. | [PDF] | |
| 59 | Hb G-Coushatta | β | VARIANT II | β-thal Short Program | 75.1 | 3.48 | Homozygous or associated with beta (0) thal. | [PDF] | |
| 60 | Hb G-Coushatta | β | VARIANT II | Dual Kit Program | 61.1 | 2.69 | Homozygous or associated with beta (0) thal. |
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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In such a case, please Refresh the page or retry at a later stage.
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Publications / Origin
- Vella F, Isaacs WA, Lehmann H, Hemoglobin G Saskatoon: beta-22Glu--Ala., Canadian journal of biochemistry, 45(2), 351-3, 1967 PubMed
- Blackwell RQ, Ro IH, Liu CS, Yang HJ, Wang CC, Huang JT, Hemoglobin variant found in Koreans, Chinese, and North American Indians: alpha-2 beta-2 22 Glu Ala., Am. J. Phys. Anthropol. , 30(3), 389-91, 1969 PubMed
- Dinçol G, Dinçol K, Erdem S, Hb G-Coushatta or alpha 2 beta 222(B4)Glu----Ala in a Turkish male., Hemoglobin , 13(1), 75-7, 1989 PubMed
- el-Hashemite N, Petrou M, Khalifa AS, Heshmat NM, Rady MS, Delhanty JD, Identification of novel Asian Indian and Japanese mutations causing beta-thalassaemia in the Egyptian population., Human genetics, 99(2), 271-4, 1997 PubMed
- Li J, Wilson D, Plonczynski M, Harrell A, Cook CB, Scheer WD, Zeng YT, Coleman MB, Steinberg MH, Genetic studies suggest a multicentric origin for Hb G-Coushatta [beta22(B4)Glu-->Ala]., Hemoglobin , 23(1), 57-67, 1999 PubMed
- Colah RB, Nadkarni A, Gorakshakar A, Sawant P, Gorivale M, Mehta P, Sawant M, Ghosh K, Five Rare β Globin Chain Hemoglobin Variants in India., Indian J Hematol Blood Transfus , 32(0), 282-6, 2016 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 16:33:18 (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 | 2016-09-06 15:18:19 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
| 4 | 2016-09-06 15:19:44 | The IthaGenes Curation Team | Reviewed. Structural Hb features updated. |
| 5 | 2016-09-06 15:30:52 | The IthaGenes Curation Team | Reviewed. |
| 6 | 2017-04-10 11:54:32 | The IthaGenes Curation Team | Reviewed. Mutation Names/DNA info added. |
| 7 | 2017-04-10 12:00:46 | The IthaGenes Curation Team | Reviewed. References added. |
| 8 | 2021-03-11 16:33:18 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07