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
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
Created on 2021-01-15 11:41:17,
Last reviewed on 2021-06-16 12:08:42 (Show full history)
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