IthaID: 3325
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 144 AAG>AGG [Lys>Arg] | HGVS Name: | HBB:c.434A>G |
| Hb Name: | Hb Heze | Protein Info: | β144(HC1)Lys>Arg |
Context nucleotide sequence:
TGGCTGGTGTGGCTAATGCCCTGGCCCACA [A/G] GTATCACTAAGCTCGCTTTCTTGCTGTCCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHRYH
Also known as:
Comments: The mutation associates with a mild β-thal phenotype in the heterozygote state, but leads to a β-thal intermedia (β-TI) phenotype when interacting with β0-thal. The lysine at β144 is located at the HC1 position, in the central pocket near to the C-terminal of the β-globin chain.
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: | 72008 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Li Y, Yan JM, Zhou JY, Lu YC, Li DZ, Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia., Hemoglobin , 41(1), 47-49, 2017 PubMed
Created on 2018-03-05 18:24:44,
Last reviewed on 2019-04-08 11:15:20 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2018-03-05 18:24:44 | The IthaGenes Curation Team | Created |
| 2 | 2019-04-08 11:15:20 | The IthaGenes Curation Team | Reviewed. Allele, Strand, Context Sequence and HbVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07