IthaID: 1087

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 87 (-ACA) HGVS Name: HBB:c.262_264delACA
Hb Name: Hb Tours Protein Info: β 87(F3) Thr->0

Context nucleotide sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70986
Size: 1 bp
Located at: β
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: N/A
Ethnic Origin: French
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Wajcman H, Labie D, Schapira G, Two new hemoglobin variants with deletion. Hemoglobin tours: Thr 8 7 (F 3 ) deleted and hemoglobin St Antoine: Gly-Leu 74-75 (E 18-19 deleted. Consequences for oxygen affinity and protein stability., Biochimica et biophysica acta, 295(2), 495-504, 1973 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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