IthaID: 3487
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 15 GGT>GTT [Gly>Val] | HGVS Name: | HBA2:c.47G>T |
| Hb Name: | Hb Liaoning | Protein Info: | α2 15(A13) Gly>Val |
Context nucleotide sequence:
AAGACCAACGTCAAGGCCGCCTGGG [G>T] TAAGGTCGGCGCGCACGCTGGCGAGTAT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWVKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Perceived to be haematologically silent. Causes interference during the monitoring of glycated haemoglobin (HbA1c). Identified by matrix assisted laser desorption/ ionization-time of flight mass spectrometry (MALDI-TOF MS). Not detected using CE or ion exchange HPLC.
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: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33822 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese Han |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Xu A, Wang Y, Chen W, Liu G, Li X, Li J, Ji L, Detection of a novel hemoglobin variant Hb Liaoning by matrix assisted laser desorption/ionization-time of flight mass spectrometry., Clin. Chem. Lab. Med., 2019
Created on 2019-11-05 17:20:48,
Last reviewed on 2023-07-13 09:56:23 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.