IthaID: 740

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 126 GAC>AAC [Asp>Asn] HGVS Name: HBA1:c.379G>A | HBA2:c.379G>A
Hb Name: Hb Tarrant Protein Info: α2 or α1 126(H9) Asp>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34413 or 38224
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Mexican
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Moo-Penn WF, Jue DL, Johnson MH, Wilson SM, Therrell B, Schmidt RM, Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity., Biochim. Biophys. Acta , 490(2), 443-51, 1977
  2. Ibarra B, Vaca G, Cantú JM, Wilson JB, Lam H, Stallings M, Gravely ME, Huisman TH, Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families., Hemoglobin , 5(4), 337-48, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 09:27:45 (Show full history)

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