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.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
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
Publications / Origin
- Vella F, Isaacs WA, Lehmann H, Hemoglobin G Saskatoon: beta-22Glu--Ala., Canadian journal of biochemistry, 45(2), 351-3, 1967
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-03-11 16:33:18 (Show full history)
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