IthaID: 1018

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 66 AAA>GAA HGVS Name: HBB:c.199A>G
Hb Name: Hb I-Toulouse Protein Info: β 66(E10) Lys>Glu

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 70923
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Rosa J, Labie D, Wajcman H, Boigne JM, Cabannes R, Bierme R, Ruffie J, Haemoglobin I toulouse: beta-66 (E 10) lys glu: a new abnormal haemoglobin with a mutation localized on the E 10 porphyrin surrounding zone., Nature, 223(5202), 190-1, 1969 PubMed
  2. Labie D, Rosa J, Belkhodja O, Bierme R, Hemoglobin toulouse alpha 2 beta 2 66 (E 10) LysGlu. Structure and consequences in molecular pathology., Biochim. Biophys. Acta , 236(1), 201-7, 1971 PubMed
  3. Hendy JG, Cauchi MN, Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia., Hemoglobin , 18(3), 227-9, 1994 PubMed
  4. Xu Z, Masters IB, Barbaro P, Miller S, Kapur N, Hemoglobin I-Toulouse: A rare hemoglobinopathy presenting with low oxygen saturations., Clin Case Rep, 10(7), e6111, 2022 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2022-08-24 14:07:40 (Show full history)

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