IthaID: 876


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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.

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.

Publications / Origin

  1. Vella F, Isaacs WA, Lehmann H, Hemoglobin G Saskatoon: beta-22Glu--Ala., Canadian journal of biochemistry, 45(2), 351-3, 1967
  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
  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
  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
  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
  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
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-11 16:33:18 (Show full history)

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