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:
CATCACTTTGGCAAAGAATTCACCC [A/C/G/T] ACCAGTGCAGGCTGCCTATCAGAAA (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTQPVQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

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)

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