IthaID: 77
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 17 AAG>TAG [Lys>STOP] | HGVS Name: | HBB:c.52A>T |
| Hb Name: | N/A | Protein Info: | β 17(A14) Lys>Stop |
Context nucleotide sequence:
GTCTGCCGTTACTGCCCTGTGGGGC [A/T] AGGTGAACGTGGATGAAGTTGGTGG (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGX
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β0 |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70646 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Chinese, Japanese, Thai |
| 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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Frequencies
Publications / Origin
- Chang JC, Kan YW, beta 0 thalassemia, a nonsense mutation in man., Proceedings of the National Academy of Sciences of the United States of America, 76(6), 2886-9, 1979 PubMed
- Ohba Y, Hattori Y, Harano T, Harano K, Fukumaki Y, Ideguchi H, beta-thalassemia mutations in Japanese and Koreans., Hemoglobin, 21(2), 191-200, 1997 PubMed
- Turbpaiboon C, Svasti S, Sawangareetakul P, Winichagoon P, Srisomsap C, Siritanaratkul N, Fucharoen S, Wilairat P, Svasti J, Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect., Hemoglobin , 26(1), 77-81, 2002 PubMed
- Xie J, Zhou Y, Xiao Q, Long R, Li L, Li L, Rare double heterozygosity for poly A(A〉 G) and CD17(A〉 T) of beta thalassemia intermedia in a Chinese family., Hematol Rep, 11(3), 7911, 2019 PubMed
Created on 2010-06-16 16:13:14,
Last reviewed on 2021-03-11 18:51:37 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:14 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:28:32 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2020-07-17 09:33:19 | The IthaGenes Curation Team | Reviewed. Reference added. |
| 4 | 2021-03-11 18:48:53 | The IthaGenes Curation Team | Reviewed. Origin and Reference added. |
| 5 | 2021-03-11 18:51:37 | The IthaGenes Curation Team | Reviewed. HGVS name corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07