IthaID: 3913
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 107 GTG>CTG [Val>Leu] | HGVS Name: | HBA2:c.322G>C |
| Hb Name: | Hb Liaobu | Protein Info: | α2 107(G14) Val>Leu |
Context nucleotide sequence:
CAGCTCCTAAGCCACTGCCTGCTG [G/C] TGACCCTGGCCGCCCACCTCCCCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLLTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The structurally abnormal α chain variant was characterized by matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS). The isopropanol stability test indicated the stable state of this structural Hb variant.
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: | 34356 |
| Size: | 1 bp |
| Located at: | α2 |
| 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
Publications / Origin
- Tan XM, Liu YH, Shang X, Ye YH, Xu XM, A Novel Hemoglobin Variant Hb Liaobu [α107(G14)Val→Leu, : c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry., Hemoglobin, 2022
Created on 2022-03-31 10:31:40,
Last reviewed on 2022-03-31 10:32:49 (Show full history)
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