IthaID: 2443

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 81 CTC>TTC [Leu>Phe] HGVS Name: HBB:c.244C>T
Hb Name: Hb Seville Protein Info: β 81(EF5) Leu>Phe

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70968
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: Missense codons (Protein Structure)
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. del Rey TH, Conde-Sánchez M, Ropero-Gradilla P, Domínguez-Pascual I, González-Fernández FA, Villegas A, Guerrero JM, Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method., Clin. Biochem. , 44(10), 933-5, 2011 PubMed
Created on 2014-06-02 10:07:36, Last reviewed on (Show full history)

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