IthaID: 845

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 11 GTT>ATT; CD 121 GAA>AAA HGVS Name: HBB:c.[34G>A;364G>A]
Hb Name: Hb O-Tibesti Protein Info: β 11(A8) Val>Ile AND β 121(GH4) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70628
Size: 1 bp
Located at: β
Specific Location: Exon 1


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: Chadian | Sudanese
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Préhu C, Riou J, Sartelet I, Promé D, Claparols C, Denier M, Motte J, Galactéros F, Wajcman H, Hb O-Tibesti [beta121(GH4)Glu-->Lys; beta11(A8)Val-->Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu-->Val]., Hemoglobin, 26(1), 13-20, 2002 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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