IthaID: 1360

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 25 GGT>GAT HGVS Name: HBD:c.77G>A
Hb Name: Hb A2-Yokoshima Protein Info: δ 25(B7) Gly>Asp

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63259
Size: 1 bp
Located at: δ
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:δ+
Stability: N/A
Oxygen Affinity: N/A
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: Yes

Publications / Origin

  1. Ohba Y, Igarashi M, Tsukahara M, Nakashima M, Sanada C, Ami M, Arai Y, Miyaji T, Hb A2 Yokoshima, alpha(2)delta(2)25(B7)Gly----Asp, a new delta chain variant found in a Japanese family., Hemoglobin, 9(6), 613-5, 1985
  2. Pavlou E, Phylactides M, Kyrri A, Kalogerou E, Makariou C, Georgiou I, Kleanthous M, Delta-thalassemia in Cyprus., Hemoglobin , 30(4), 455-62, 2006
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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