IthaID: 3961
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| 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 |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34403 |
| Size: | 2 bp |
| Located at: | α2 |
Other details
| Type of Mutation: | Insertion & Deletion |
|---|---|
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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
Created on 2022-08-17 10:20:47,
Last reviewed on 2022-08-17 10:24:39 (Show full history)
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