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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCCTTTAGTGATGGCCTGGCTCACCTG [G>A] ACAACCTCAAGGGCACTTTTTCTCAGCT (Strand: -)
Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLNNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Comments: The c.238G>A (p.Asp80Asn) variant is a missense variant in exon 2 of the HBD gene. It was identified in the heterozygous state alongside a poly(A) variant in the HBD gene [IthaID: 4146], in trans, in a clinically asymptomatic adult. Hematological parameters: 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.
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
- Long XG, He X, Zheng LH, Liang L, Qin T, Li YQ, Hb A-Guangxi [δ79 (EF3) Asp→Asn, : C.238G > A] and polyA + 70 (: C.*200G > A): Two Novel δ-Globin Gene Mutations Identified in a Chinese Family., Hemoglobin, 48(4), 265-269, 2024
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2024-01-15 | First report. |