IthaID: 624

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 78 AAC>GAC [Asn>Asp] HGVS Name: HBA1:c.235A>G | HBA2:c.235A>G
Hb Name: Hb J-Singa Protein Info: α2 or α1 78(EF7) Asn>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a French-Acadian family clinically asymptomatic.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 34127 or 37931
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: French-Acadian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Wong SC, Ali MA, Pond JR, Rubin SM, Johnson SE, Wilson JB, Huisman TH, Hb J-Singa (alpha-78 Asn leads to Asp), a newly discovered hemoglobin variant with the same amino acid substitution as one of the two present in Hb J-Singapore (alpha-78 Asn leads to, alpha-79 Ala leads to Gly)., Biochim. Biophys. Acta , 784(2), 187-8, 1984 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-05 12:55:33 (Show full history)

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