IthaID: 3075
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 56/57 (+24bp) | HGVS Name: | HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG |
| Hb Name: | Hb Kaohsiung Veterans General Hospital | Protein Info: | Ser-His-Gly-Ser-Ala-Gln-Val-Arg- inserted between codons 56(E5) and 57(E6) of α1 |
Also known as: HBA1:p.Lys57_Gly58insSerHisGlySerAlaGlnValLys , Hb KSVGH
Comments: Found as a heterozygote in a patient with erythrocytosis.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External 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: | 37868 |
| Size: | 24 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | Taiwanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wang MC, Tsai KW, Chu CH, Yu MS, Lam HC, A novel hemoglobin variant found on the α1 chain: Hb KSVGH (HBA1: p.Lys57_Gly58insSerHisGlySerAlaGlnValLys)., Hemoglobin , 39(2), 81-7, 2015
Created on 2016-09-08 18:28:22,
Last reviewed on 2018-02-07 17:22:49 (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.