IthaID: 2471


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 64 GGC>GAC [Gly>Asp] HGVS Name: HBG2:c.194G>A
Hb Name: Hb F-Turritana Protein Info: Gγ 64(E8) Gly>Asp

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43203
Size: 1 bp
Located at:
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Sardinian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Pirastru M, Mereu P, Trova S, Manca L, Masala B, A new unstable variant of the fetal hemoglobin HBG2 gene: Hb F-Turritana [(G) γ64(E8)Gly→Asp, HBG2:c.194G>A] found in cis to the Hb F-Sardinia gene [(A) γ(E19)Ile→Thr, HBG1:c.227T>C]., Eur. J. Haematol. , 92(6), 510-3, 2014
Created on 2014-06-03 16:53:24, Last reviewed on (Show full history)

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