IthaID: 956

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 45 TTT>TAT [Phe>Tyr] HGVS Name: HBB:c.137T>A
Hb Name: Hb Den Haag Protein Info: β 45(CD4) Phe>Tyr

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70861
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Scandinavian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Kaufmann JO, Harteveld CL, Bakker-Verweij M, Arkesteijn SG, van Delft P, Haak H, Wijermans PW, Kerkhoffs JL, Giordano PC, Hb Den Haag [beta45(CD4)Phe-->Tyr]. A new hemoglobin variant observed during early pregnancy diagnostics., Hemoglobin , 34(1), 37-44, 2010 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 17:19:42 (Show full history)

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