IthaID: 3751

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 122 CAC>GAC [His>Asp] HGVS Name: HBA1:c.367C>G
Hb Name: Hb Daxin Protein Info: α1 122(H5) His>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 36-year old Chinese male presented with Hb 13.3 g/dL, MCV 74.3 fL, MCH 23.7 pg. Capillary electrophoresis revealed no separation of HbX and HbA at alkaline pH on the capillary 2 Flex Piercing device and the results shown HbA2 2.7 %, HbA 96.7 %, HbF 0.6 %.

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: 38212
Size: 1 bp
Located at: α1
Specific Location: Exon 3

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

To the best of our knowledge, this is unpublished data.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


1Li, Youqiong2021-02-25First report.
Created on 2021-02-26 08:16:04, Last reviewed on (Show full history)

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