IthaID: 484

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 23 GAG>CAG [Glu>Gln] HGVS Name: HBA2:c.70G>C
Hb Name: Hb Memphis Protein Info: α2 23(B4) Glu>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

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: 33845
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Turkish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Kraus LM, Miyaji T, Iuchi I, Kraus AP, Characterization of alpha23GluNH2 in hemoglobin Memphis. Hemoglobin Memphis/S, a new variant of molecular disease., Biochemistry , 5(11), 3701-8, 1966 PubMed
  2. Cooper MR, Kraus AP, Felts JH, Ramseur WL, Myers R, Kraus LM, A third case of hemoglobin Memphis-sickle cell disease. Whole blood viscosity used as a screening test., Am. J. Med. , 55(3), 535-41, 1973 PubMed
  3. Lubrano L, Donnelly MJ, Sandler G, Hoyer JD, Swanson KC, Dawson DB, Oliveira JL, Hb Memphis [HBA2: c.70G>C (or HBA1)] in a Turkish child: a case report and comparison to Hb Q-Thailand (HBA1: c.223G>C)., Hemoglobin, 38(2), 137-41, 2014 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-31 20:48:24 (Show full history)

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