IthaID: 4091
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 79 GAC>AAC [Asp>Asn] | HGVS Name: | HBD:c.238G>A |
| Hb Name: | Hb A2-Guangxi | Protein Info: | N/A |
Context nucleotide sequence:
GCCTTTAGTGATGGCCTGGCTCACCTG [G>A] ACAACCTCAAGGGCACTTTTTCTCAGCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLNNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found as a novel Hb variant in the heterozygous state in a 35-year-old Chinese male. No clinical presentation. Haematology: Hb 16.2 g/dL, RBC 5.16×10^12/L, MCV 91.5 fL, MCH 31.4 pg. Splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2-Guangxi) on the capillary 2 Flex Piercing device. Hb analysis: Hb A 98% , Hb F 0%, Hb A2 1.3%, Hb A2-Guangxi 0.7%. The electrophoresis position of Hb A2-Guangxi is located at Z1 zone.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 63548 |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2024-01-15 | First report. |