IthaID: 867

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 21 GAT>TAT HGVS Name: HBB:c.64G>T
Hb Name: Hb Yusa Protein Info: β 21(B3) Asp>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70658
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Japanese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Harano T, Harano K, Ueda S, Shibata S, Iuchi I, Mizushima J, Matsumoto T, Harada H, Hemoglobin Yusa (beta 21 (B3) Asp leads to Tyr), a new abnormal hemoglobin found in Japan., Hemoglobin, 5(2), 121-31, 1981
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.