IthaID: 728

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 121 GTG>ATG [Val>Met] HGVS Name: HBA1:c.364G>A
Hb Name: Hb Owari Protein Info: α1 121(H4) Val>Met

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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: 38209
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Harano T, Harano K, Ueda S, Hb Owari [alpha 121 (H 4) Val----Met]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing., Hemoglobin , 10(2), 127-34, 1986
  2. Wang LH, Chang CS, Hsieh LL, Er TK, Chang JG, Liu TC, Hb Owari associated with alpha-thalassaemia-1 in a Taiwanese subject., Br J Biomed Sci, 66(4), 205-7, 2009
Created on 2010-06-16 16:13:16, Last reviewed on 2021-04-07 12:38:08 (Show full history)

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