IthaID: 3712
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 140 TAC>TCC [Tyr>Ser] | HGVS Name: | HBA2:c.422A>C |
| Hb Name: | Hb Angers | Protein Info: | α2 140(HC2) Tyr>Ser |
Context nucleotide sequence:
TGTGAGCACCGTGCTGACCTCCAAAT [A/C] CCGTTAAGCTGGAGCCTCGGTAGCCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKSR
Also known as:
Comments: Found in a 75-year old man and his son presented with increased oxygen affinity and erythrocytosis. Both had low P50 value. The 32-year old son was compound heterozygous for the novel mutation and the 5’UTR mutation in the α2 gene HBA2:c.-24C>G [IthaID: 2481].
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34456 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian |
| 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
- Orvain C, Kiger L, Peronet I, Peron A, Galacteros F, Wajcman H, Pissard S, Hb Angers: A new α2-globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis., Int J Lab Hematol, 2020 PubMed
Created on 2021-01-15 11:41:17,
Last reviewed on 2021-06-16 12:08:42 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2021-01-15 11:41:17 | The IthaGenes Curation Team | Created |
| 2 | 2021-01-15 11:42:40 | The IthaGenes Curation Team | Reviewed. Publication added. |
| 3 | 2021-02-01 11:44:47 | The IthaGenes Curation Team | Reviewed. Protein sequence corrected. |
| 4 | 2021-06-16 12:08:42 | The IthaGenes Curation Team | Reviewed. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07