IthaID: 1229

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 124 CCA>CTA HGVS Name: HBB:c.374C>T
Hb Name: Hb Tende Protein Info: β 124(H2) Pro>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


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
Molecular mechanism: Altered α1β1 interface
Inheritance: Recessive
DNA Sequence Determined: Yes


Publications / Origin

  1. Wajcman H, Kister J, Préhu C, Riou J, Godart C, Bardakdjian J, Soummer AM, Promé D, Galactéros F, Hb Tende [beta124(H2)Pro-->Leu]: a new variant with a moderate increase in oxygen affinity., Hemoglobin, 22(5), 517-23, 1998
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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