IthaID: 3747

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 59 AAG>ATG [Lys>Met] HGVS Name: HBB:c.179A>T
Hb Name: Hb Dahua Protein Info: β 59(E3) Lys>Met

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 6-month old Chinese boy presented with Hb 11.9 g/dL, RBC 4.74×1012/L, MCV 80.0 fL and MCH 25.0 pg. Capillary electrophoresis shown that HbX is completely separated from HbA2 and located in zone 13 (HbX 51.2 % , HbA 44.3 %, HbF 2.3 %, HbA2 2.2 %).

External Links

No available 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: 70903
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

Publications / Origin

To the best of our knowledge, this is unpublished data. Please use with caution!


1Li, Youqiong2021-02-20First report.
Created on 2021-02-22 10:57:05, Last reviewed on (Show full history)

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