IthaID: 4032

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 80 AAC>AAA [Asn>Lys] HGVS Name: HBD:c.243C>A
Hb Name: Hb A2-Lishui Protein Info: N/A

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: It was found in a 40-year-old male from Lishui City, Zhejiang Province, China, who had normal hematological parameters.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-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: 63552
Size: 1 bp
Located at: δ
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

  1. Xu A, Li M, Ye Y, Li L, Ma M, Wu SY, Ji L, Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants., Int J Lab Hematol, 45(6), 961-968, 2023 PubMed


1Xu, Anping2023-06-20First report.
Created on 2023-06-23 14:11:41, Last reviewed on 2024-03-12 11:33:00 (Show full history)

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