IthaID: 3989
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 20 CAC>CTC [His>Leu] | HGVS Name: | HBA2: c.62A>T |
| Hb Name: | Hb Hebei | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GCCGCCTGGGGTAAGGTCGGCGCGC [A>T] CGCTGGCGAGTATGGTGCGGAGGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGALAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVHDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Reported in a heterozygous state in a 34-year-old male with Hb 17.0 g/dL, MCV 84.1 fL, MCH 32.4 pg. No clinical presentation. Hb Hebei and Hb A cannot be separated using capillary 2 Flex Piercing device (Hb A 96.9%, Hb A2 3.1%). HPLC display a high value of P3 peak on the D100 instrument.
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: | 33837 |
| 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 |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Li WB, Zheng LH, Li YQ, Hb Hebei [α20 (B1) His→Leu; :C.62A > T]: A Novel Hemoglobin Variant Found during Measurement of Glycated Hemoglobin., Hemoglobin, 2024
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Li, Youqiong | 2022-11-29 | First report. |
Created on 2022-12-07 14:00:21,
Last reviewed on 2024-02-22 13:22:04 (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.