IthaID: 1228

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 124 CCA>CAA HGVS Name: HBB:c.374C>A
Hb Name: Hb Ty Gard Protein Info: β 124(H2) Pro>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71948
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French, Indian
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Bursaux E, Blouquit Y, Poyart C, Rosa J, Hemoglobin Ty GARD (alphaA2beta2 124 (H2) Pro replaced by Gln). A stable high O2 affinity variant at the alpha1beta1 contact., FEBS letters, 88(1), 155-9, 1978
  2. Wahengbam AKGS, Kumari K, Singh RK, Rao VR, Saraswathy KN, Dharajiya K, Das R, Murry B, An Uncommon Variant Hemoglobin: Hb Ty Gard Detected from Gujarat, India., Indian J Hematol Blood Transfus, 35(3), 599-600, 2019
Created on 2010-06-16 16:13:17, Last reviewed on 2020-01-29 15:26:50 (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.