IthaID: 4069
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 46 GGG>AGG [Gly>Arg] | HGVS Name: | HBD:c.139G>A |
| Hb Name: | Hb A2-Yulin | Protein Info: | N/A |
Context nucleotide sequence:
GGACCCAGAGGTTCTTTGAGTCCTTT [G>A] GGGATCTGTCCTCTCCTGATGCTGTT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFRDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
Comments: The HBD:c.139G>A variant was reported in a heterozygous state, along with β CD41/42 (-CTTT), in a 5-year-old Chinese girl [Hb 10.9 g/dL, RBC 5.76×1012/L, MCV 57.10 fL, MCH 18.90 pg]. Detected by Sanger sequencing. Capillary electrophoresis revealed splitting of the Hb A2 peak into two fractions (Hb A2 and Hb A2-Yulin) on the capillary 2 Flex Piercing device (Hb A 91.9% ,Hb F 4.0%, Hb A2 2.7%, Hb A2-Yulin 1.4%). The electrophoresis position of Hb A2-Yulin 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: | 63449 |
| 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
- Lin HM, Liang L, Cai YJ, Zheng LH, Qin QP, Li YQ, A New δ-Globin Gene Variant: Hb A2-Yulin [δ46(CD5)Gly→Arg,: C.139G > A]., Hemoglobin, 2024
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2023-08-30 | First report. |