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:
MDHFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTGVASALSSRYH

Also known as:

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

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

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

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
Created on 2018-02-15 17:49:16, Last reviewed on (Show full history)

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