IthaID: 1277
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 139 AAT>TAT | HGVS Name: | HBB:c.418A>T |
| Hb Name: | Hb Aurora | Protein Info: | β 139(H17) Asn>Tyr |
Context nucleotide sequence:
TCAGAAAGTGGTGGCTGGTGTGGCT [A>T] ATGCCCTGGCCCACAAGTATCACTA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAYALAHKYH
Also known as:
Comments: Reported as a high oxygen affinity Hb variant in an individual of Dutch descent with a rich medical history. Residue β139 is not involved in the α1β2 or α1β1 interfaces, but is close to the carboxy terminal end of the β chain located in the central cavity of the Hb molecule near the 2,3-DPG binding site. The Asn at β139 interacts with β82 Lys, which is a 2,3-DPG binding site. The substitution of different amino acids at β139 may alter the 2,3-DPG binding capabilities of Hb and in turn alter its oxygen affinity.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71992 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Lafferty J, Ali M, Matthew K, Eng B, Patterson M, Waye JS, Identification of a new high oxygen affinity hemoglobin variant: Hb Aurora [beta 139(H17) Asn-->Tyr], Hemoglobin, 19(6), 335-41, 1995