IthaID: 3319

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 1 GGT>GAT [Gly>Asp] HGVS Name: HBG2:c.5G>A
Hb Name: Hb F-Hayward Protein Info: Gγ 1(NA1) Gly>Asp

Protein sequence:

Also known as:

Comments: The variant was discovered in two newborn samples of Mexican and mixed (Mexican, Greek, German) ethnic origin.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 42892
Size: 1 bp
Located at:
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Cui J, Baysdorfer C, Azimi M, Vichinsky EP, Hoppe CC, Identification of three novel Hb F variants: Hb F-Hayward [Gγ1(NA1)Gly→Asp, GGT>GAT], Hb F-Chori-I [AγT16(A13)Gly→Asp, GGC>GAC] and Hb F-Chori-II [AγI29(B11)Gly→Glu, GGA>GAA]., Hemoglobin , 36(3), 305-9, 2012 PubMed
Created on 2018-02-15 17:49:16, Last reviewed on (Show full history)

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