IthaID: 3629

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 64 GGC>AGC [Gly>Ser] HGVS Name: HBB:c.193G>A
Hb Name: Hb Hezhou Protein Info: β 64(E8) Gly>Ser

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in heterozygosity in two Chinese males with normal clinical presentation and normal isopropanol precipitation. HbX and HbA are not completely separated by capillary electrophoresis.

External Links


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: 70917
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

Sequence Viewer

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Publications / Origin

  1. Zhao YL, Lin QF, He XW, Li YQ, Liang L, Hb Hezhou [β64(E8)Gly→Ser; : c.193G>A]: A Novel Variant on the β-Globin Gene., Hemoglobin, 45(2), 133-135, 2021 PubMed
Created on 2020-09-17 10:15:45, Last reviewed on 2021-09-28 12:28:57 (Show full history)

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