IthaID: 3623
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 16 AAG>CAG [Lys>Gln] | HGVS Name: | HBA2:c.49A>C |
Hb Name: | Hb Heilongjiang | Protein Info: | α2 16(A14) Lys>Gln |
Context nucleotide sequence:
GACCAACGTCAAGGCCGCCTGGGGT [A/C] AGGTCGGCGCGCACGCTGGCGAGTA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGQVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 46-year old Chinese woman with decreased MCV (69.9fL) and MCH (20.6pg). The α-chain Hb variant accounting 28.5%, interfered with HbA1c measurement
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
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Hemoglobinopathy Subgroup: | α-thalassaemia, α-chain variant |
Allele Phenotype: | α⁺ |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 33824 |
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
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
- Xu A, Chen W, Xie W, Ji L, Wang Y, Xu M, A New α Chain Variant, Hb Heilongjiang (: c.49A>C), Found During Hb A Measurement., Hemoglobin, 44(2), 143-145, 2020 PubMed
Created on 2020-09-08 11:12:26,
Last reviewed on 2022-07-12 13:15:31 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2020-09-08 11:12:26 | The IthaGenes Curation Team | Created |
2 | 2020-09-08 11:23:35 | The IthaGenes Curation Team | Reviewed. Comment added. |
3 | 2020-09-09 15:21:48 | The IthaGenes Curation Team | Reviewed. Protein name corrected. |
4 | 2022-07-12 11:48:15 | The IthaGenes Curation Team | Reviewed. Allele phenotype added. |
5 | 2022-07-12 13:15:31 | The IthaGenes Curation Team | Reviewed. Haemoglobinopathy group corrected. |
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IthaGenes was last updated on 2024-11-14 09:07:40