IthaID: 1044
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 74-76 (-GCCTGG) | HGVS Name: | HBB:c.224_229delGCCTGG |
| Hb Name: | Hb Saint-Antoine | Protein Info: | β 74(E18) - 75(E19) Gly-Leu->0 |
Context nucleotide sequence:
AAGTGCTCGGTGCCTTTAGTGATG [-/GCCTGG] CTCACCTGGACAACCTCAAGGGCA (Strand: -)
Also known as:
Comments: The deleted segment Gly-Leu β 74–75 (E 18–19) is the end of helix E and close to a loose zone. Although it is in the vicinity of one of the 2,3-diphosphoglycerate binding sites, it has apparently only minor consequences for the functional properties of the molecule. Reported in literature as HBB:c.223_228delGGCCTG, which does not follow the HGVS Sequence Variant Nomeclature recommendations.
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70948 |
| Size: | 6 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-11-11 13:09:44 (Show full history)
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