IthaID: 2281

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 83 CTG>CGG [Leu>Arg] HGVS Name: HBA2: c.251T>G
Hb Name: Hb Ahvaz Protein Info: α2 83(F4) Leu > Arg

Also known as:

Comments: Leucine to Arginine amino acid change seems to increase oxygen affinity, heme loss, and instability. Thus, altering the spatial arrangements of the contact points decrease the affinity of the α-globin chain for the β-globin chain.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37947
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Hamid M, Shariati G, Saberi A, Galehdari H, Kaikhaei B, Mohammadi-Anaei M, Hb AHVAZ [α83(F4)Leu→Arg, CTG>CGG (α2); HBA2: c.251T>G],A New Hemoglobin Variant of the α2-Globin Gene., Hemoglobin , 37(5), 477-80, 2013 PubMed
Created on 2013-10-09 13:06:24, Last reviewed on 2018-02-27 17:58:54 (Show full history)

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