IthaID: 640

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 85 GAC>TAC [Asp>Tyr] HGVS Name: HBA1:c.256G>T | HBA2:c.256G>T
Hb Name: Hb Atago Protein Info: α2 or α1 85(F6) Asp>Tyr

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34148 or 37952
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Fujiwara N, Maekawa T, Matsuda G, Hemoglobin Atago (alpha2-85Tyr beta-2) a new abnormal human hemoglobin found in Nagasaki. Biochemical studies on hemoglobins and myoglobins. VI., Int. J. Protein Res. , 3(1), 35-9, 1971 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-11 20:39:51 (Show full history)

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