IthaID: 739

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 126 GAC>TΑC [Asp>Tyr] HGVS Name: HBA1:c.379G>T
Hb Name: Hb Montefiore Protein Info: α1 126(H9) Asp>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Puerto Rican
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Kister J, Galactéros F, Spielvogel A, Lin MJ, Vidugiris GJ, Hirsch RE, Friedman JM, Nagel RL, Hb Montefiore (126(H9)Asp-->Tyr). High oxygen affinity and loss of cooperativity secondary to C-terminal disruption., J. Biol. Chem. , 271(38), 22990-8, 1996 PubMed
  2. Zhou X, Chen T, Zhang Q, Qi M, Zhang L, Du J, Chi H, Shen B, Xu X, Lu Y, De novo HBB frameshift mutation in a patient with dominant β-thalassemia major., Int J Lab Hematol, 44(1), e21-e25, 2022 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-03-02 09:50:23 (Show full history)

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