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 |
Context nucleotide sequence:
GCCGCCTGGGGTAAGGTCGGCGCGC [A>T] CGCTGGCGAGTATGGTGCGGAGGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGALAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVHDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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.
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: | 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)
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