IthaID: 246
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 123-125 (-ACCCCACC) >135aa | HGVS Name: | HBB:c.370_378delACCCCACCA |
| Hb Name: | Hb Khon Kaen | Protein Info: | β 123 - 125 (-ACCCCACCA); modified C-terminal sequence: (123)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (143)His-COOH |
Context nucleotide sequence:
GGCCCATCACTTTGGCAAAGAATTC [-/ACCCCACC] GTGCAGGCTGCCTATCAGAAAGTGG (Strand: -)
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Dominant |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71944 |
| Size: | 8 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Thai |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Fucharoen G, Fuchareon S, Jetsrisuparb A, Fukumaki Y, Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait., Blood, 78(2), 537-9, 1991
Created on 2010-06-16 16:13:15,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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