IthaID: 909

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 31 CTG>CGG HGVS Name: HBB:c.95T>G
Hb Name: Hb Hakkari Protein Info: β 31(B13) Leu>Arg

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70819
Size: 1 bp
Located at: β
Specific Location: Exon 2


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-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: N/A
Ethnic Origin: Turkish | Yugoslavian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer


Publications / Origin

  1. Gürgey A, Altay C, Gu LH, Leonova JY, Delibalta A, Oner C, Huisman TH, Hb Hakkari or alpha 2 beta 2 31(B13)Leu-->Arg, a severely unstable hemoglobin variant associated with numerous intra-erythroblastic inclusions and erythroid hyperplasia of the bone marrow., Hemoglobin, 19(3), 165-72, 1995 PubMed


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