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
58Hb G-CoushattaβD-10Dual Kit Program352.7Homozygous or associated with beta (0) thal.[PDF]
59Hb G-CoushattaβVARIANT IIβ-thal Short Program75.13.48Homozygous or associated with beta (0) thal.[PDF]
60Hb G-CoushattaβVARIANT IIDual Kit Program61.12.69Homozygous or associated with beta (0) thal.

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Vella F, Isaacs WA, Lehmann H, Hemoglobin G Saskatoon: beta-22Glu--Ala., Canadian journal of biochemistry, 45(2), 351-3, 1967 PubMed
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.