IthaID: 1195
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 112-116 (+GTGTGCTGGCCC) | HGVS Name: | HBB:c.338_349dupGTGTGCTGGCCC |
| Hb Name: | Hb Antibes-Juan-Les-Pins | Protein Info: | β 116(G18) His->0 AND Arg-Val-Leu-Ala-His- inserted between 115(G17) and 117(G19) of β |
Context nucleotide sequence:
AACGTGCTGGTCTGTGTGCTGGCCC [-/GTGTGCTGGCCC] ATCACTTTGGCAAAGAATTCACCCC (Strand: -)
Also known as:
Comments: Found in a father and his two sons with abnormal haematological parameters. Amino acid residues at positions β115-β119 at the end of helix G in the normal β-globin chain are involved either in α1β1 subunit links or externally on the Hb molecule. The insertion of five amino acid residues leads to the addition of a complete helix turn that has no effect on oxygen binding but decreases molecule stability. Oxygen dissociation curves were normal.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71912 |
| Size: | 12 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | French, Greek |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lacan P, Becchi M, Zanella-Cleon I, Aubry M, Quinsat D, Couprie N, Francina A, Identification by mass spectrometry of a hemoglobin variant with an elongated beta-globin chain., Clinical chemistry, 51(1), 213-5, 2005
- Theodoridou S, Boutou E, Vyzantiadis TA, Balassopoulou A, Vlachaki E, First Report of a Coincidental Discovery of Hb Antibes-Juan-Les-Pins (: c.349_350insGTGTGCTGGCCC) in a Greek Woman., Hemoglobin, 44(5), 361-363, 2020
Created on 2010-06-16 16:13:17,
Last reviewed on 2021-06-23 12:52:50 (Show full history)
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