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 |
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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) |
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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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2022-12-07 14:00:21 | The IthaGenes Curation Team | Created |
2 | 2024-02-22 13:22:04 | The IthaGenes Curation Team | Reviewed. Publication added. |
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IthaGenes was last updated on 2024-12-12 10:33:52