IthaID: 3843
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 120 AAG>ACG [Lys>Thr] | HGVS Name: | HBD:c.362A>C |
| Hb Name: | Hb A2-Liangqing | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTGTGCTGGCCCGCAACTTTGGCA [A>C] GGAATTCACCCCACAAATGCAGGC (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGTEFTPQMQAAYQKVVAGVANALAHKYH
Comments: Found as a novel Hb variant in a 33-year-old Chinese male with normal hematological parameters (Hb 16. 0g/dL, RBC 5.54×10^12/L, MCV 88.6 fL, MCH 28.9pg). No clinical presentation. Detected by capillary electrophoresis at Z6 zone. Splitting of the Hb A2 peark into two fractions (Hb A2 and Hb A2-Liangqing on the capillary 2 Flex Piercing device). The results of patient are as follow: Hb A 97.4% ,Hb F 0%, Hb A2 1.5%, Hb A2-Liangqing 1.1%.
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: | 64570 |
| Size: | 1 bp |
| Located at: | δ |
| 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
Sequence Viewer
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2021-08-17 | First report. |