IthaID: 3749

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 74 GAC>GGC [Asp>Gly] HGVS Name: HBA2:c224A>G
Hb Name: Hb Liangqing Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a newborn female twin. The younger sister presented with Hb 14. g/dL, RBC 3.86×1012/L, MCV 110.4 fL, MCH 36.3 pg and the elder sister with Hb 13.1 g/dL, RBC 3.80×1012/L, MCV 106.3 fL and MCH 34.5 pg. Capillary electrophoresis revealed that HbX and HbA are completely separated on the capillary 2 Flex Piercing device. The cord blood results shown HbX 12.7 %, HbA 18.2 %, HbF 69.1 % and HbX 11.6 %, HbA 20.7 %, HbF 67.7 % from the younger and elder sister respectively.

External Links

No available links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34116
Size: 1 bp
Located at: α2
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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2021-02-24First report.
Created on 2021-02-24 17:01:52, Last reviewed on (Show full history)

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