IthaID: 612

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 75 GAC>AAC [Asp>Asn] HGVS Name: HBA2:c.226G>A
Hb Name: Hb Matsue-Oki Protein Info: α2 75(EF4) Asp>Asn

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: 34118
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Ohba Y, Miyaji T, Matsuoka M, Takeda I, Fukuba Y, Hemoglobin Matsue-Oki: alpha 75 (EF 4) aspartic acid leads to asparagine., Hemoglobin , 1(4), 383-8, 1977 PubMed
  2. Moo-Penn WF, Johnson MH, Therrell BL, Hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black American., Hemoglobin , 2(1), 71-4, 1978 PubMed
  3. Yi-Tao Z, Headlee ME, Henson J, Lam H, Wilson JB, Huisman TH, Identification of hemoglobin G-Philadelphia (alpha 68 Asn replaced by Lys) and hemoglobin Matsue-Oki (alpha 75 Asp replaced by Asn) in a black infant., Biochim. Biophys. Acta , 707(2), 206-12, 1982 PubMed
  4. Khalil MS, Timbs A, Henderson S, Schuh A, Hussein MR, Old J, Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia., Int J Lab Hematol, 33(3), 318-25, 2011 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2021-03-31 21:54:38 (Show full history)

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