IthaID: 3748

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 124 TCC>ACC [Ser>Thr] HGVS Name: HBA2:c.373T>A
Hb Name: Hb Huadu Protein Info: α2 124(H7) Ser>Thr

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in compound heterozygosity with the CD 41/42 (-CTTT) [IthaID: 147] in a 36-year-old Chinese male presented with microcytosis.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 34407
Size: 1 bp
Located at: α2
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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ju AP, Zheng LH, Fu XT, Liu SX, Li YQ, Hb Huadu [α124(H7)Ser→Thr (CC>CC), : c.373T>A]: A Novel Variant of the α-Globin Gene., Hemoglobin, 46(6), 335-337, 2022 PubMed


1Li, Youqiong2021-02-24First report.
Created on 2021-02-24 14:21:18, Last reviewed on 2023-03-08 12:09:03 (Show full history)

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