IthaID: 4072
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 58 CAC>AAC [His>Asn] | HGVS Name: | HBA2:c.175C>A |
| Hb Name: | Hb DG-Nancheng | Protein Info: | N/A |
Context nucleotide sequence:
CCACGGCTCTGCCCAGGTTAAGGGC [C>A] ACGGCAAGAAGGTGGCCGACGCGCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGNGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: One heterozygous case, presenting with a borderline decreased MCV (80.7 fl) and MCH (26.8 pg), normal haemoglobin pattern by capillary zone electrophoresis (CE) and matrix-assisted laser desorption ionization time of flight (MALDI-TOF) mass spectrometry (MS). One compound heterozygous case with --SEA deletion, presenting with an Hb Bart's level of 17.4% at newborn, and at 5 months with Hb 95 g/L, MCV 67.4 fL, MCH 16 pg, Hb A2 2.4%, Hb F 2.2% and Bart’s 1.9%. MALDI-TOF-MS identified an abnormal α-globin chain at 15103 m/z. The HBA2:c.175C>A variation leads to a replacement of the distal histidine (E7 helical position) with an asparagine, possibly altering the heme pocket. Based on the hematological phenotype of the affected individuals, the abnormal α chain is probably unstable.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34067 |
| Size: | 1 bp |
| Located at: | α2 |
| 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To the best of our knowledge, this is unpublished data.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 | Yan, Yan Tizhen | 2023-09-24 | First report. |