IthaID: 3961
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
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Common Name: | CD 122/123 (-CG,+GA) | HGVS Name: | HBA2:c.369_370delinsGA |
Hb Name: | Hb Nanning | Protein Info: | α2 122(H5) His>Gln and α2 123(H6) Ala>Thr |
Context nucleotide sequence:
CCGCCGAGTTCACCCCTGCGGTGCA [CG/GA] GCCTCCCTGGACAAGTTCCTGGCTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVQASLDKFLASVSTVLTSKYR
Also known as:
Comments: The deletion/insertion causes the change of two amino acids in the H helix of the HBA2.The transition of histidine to glutamine at codon 122 and the transversion of alanine to threonine at codon 123, that have been reported in Hb Westmead [IthaID: 730] and Hb Santa Barnabas [IthaID: 731] respectively.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
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Locus: | NG_000006.1 |
Locus Location: | 34403 |
Size: | 2 bp |
Located at: | α2 |
Other details
Type of Mutation: | Insertion & Deletion |
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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
- Chen B, Lin L, Yi S, Chen Q, Wei H, Li G, Zheng C, He S, Qiu X, A Novel Mutation of the α2-Globin Gene Causing α-Thalassemia: Hb Nanning (HBA2: c.369_370delinsGA)., Hemoglobin, 41(1), 56-58, 2017 PubMed
Created on 2022-08-17 10:20:47,
Last reviewed on 2022-08-17 10:24:39 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-08-17 10:20:47 | The IthaGenes Curation Team | Created |
2 | 2022-08-17 10:23:30 | The IthaGenes Curation Team | Reviewed. Protein info added. |
3 | 2022-08-17 10:24:39 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-09-28 12:00:32