IthaID: 3442
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 51-58 (+24 bp) | HGVS Name: | HBA1:c.157_180dupTCTGCCCAGGTTAAGGGCCACGGC |
| Hb Name: | Hb Choisy | Protein Info: | N/A |
Context nucleotide sequence:
CCCGCACTTCGACCTGAGCCACGGC [-/TCTGCCCAGGTTAAGGGCCACGGC] AAGAAGGTGGCCGACGCGCTGACCA (Strand: +)
Also known as:
Comments: Insertion of eight amino acids (Ser-Ala-Gln-Val-Lys-Gly-His-Gly) due to a 24 bp duplication from nucleotide 157 to 180. The His(E7) residue appears to be in its normal position, while the eight additional residues are probably inserted at the beginning of helix E, increasing its size, but with mild effects on folding and heme contact.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| 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: | 37853 |
| Size: | 24 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Insertion) |
|---|---|
| Effect on Gene/Protein Function: | Insertion/Deletion of codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Wajcman H, de Brevern AG, Riou J, Latouche C, Marden MC, Pissard S, Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example., Hemoglobin, 42(0), 287-293, 2018
Created on 2019-08-01 16:08:22,
Last reviewed on 2019-08-01 16:09:25 (Show full history)
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