IthaID: 4027

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 133 AGC>CGC [Ser>Arg] HGVS Name: HBA2:c.400A>C
Hb Name: Hb Val de Marne Protein Info: α133(H16) Ser>Arg

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Reported in a heterozygous state in persons of Chinese origin with normal haematological indices. The variant Hb is detactable by CE (12-16%).

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: 38245
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. Yao C, Qin D, Wang J, Bao X, Liang J, Du L, First study to describe a novel : c.400A > C mutation and Hb Dongguan heterozygote in two unrelated Chinese families., Hematology, 27(1), 867-873, 2022 PubMed
Created on 2023-06-01 16:09:05, Last reviewed on 2023-06-29 10:57:44 (Show full history)

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