IthaID: 4160
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 61 AAG>AAT or AAC [Lys>Asn] | HGVS Name: | HBD:c.186G>T | HBD:c.186G>C |
| Hb Name: | Hb A2-Jinxiu | Protein Info: | N/A |
| Also known as: | Hb A2-Jilin |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ATGGGCAACCCTAAGGTGAA [G/T/C] GCTCATGGCAAGAAGGTGCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVNAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Comments: The HBD:c.186G>T (Hb A₂–Jinxiu) was identified in a 33-year-old Chinese male with normal haematological indices. Capillary electrophoresis revealed reduced HbA₂ levels and the presence of an abnormal Hb A₂–Jinxiu peak of 1%. Additionally, in a second report, the HBD:c.186G>C (Hb A₂–Jilin) was identified in a 46-year-old female originating from Jilin City, Liaoning Province, China, who also had normal haematological indices. Capillary electrophoresis (Capillarys 3 TERA) revealed a small abnormal peak of 0.8%.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-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: | 63496 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 2 |
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
Publications / Origin
- Li Y, Ye L, Liang L, Zheng L, Xiao Y, Lao Z, Bai J, He X, Fang Q, Qin T, Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis., Front Genet, 16(0), 1584310, 2025
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Ye, Peng | 2025-09-11 | Report of an update. |