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:
CCCTAAGGTGAAGGCTCATGGCAAG [A/G] AAGTGCTCGGTGCCTTTAGTGATGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKEVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Methemoglobinaemia |
| Stability: | Unstable |
| Oxygen Affinity: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| 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
Publications / Origin
- 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
- 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
- Hendy JG, Cauchi MN, Hb I-Toulouse [beta 66(E10)Lys->Glu] in association with alpha-thalassemia., Hemoglobin , 18(3), 227-9, 1994
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2022-08-24 14:07:40 (Show full history)
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