IthaID: 2317
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 20 CAC>CAA [His>Gln] | HGVS Name: | HBA1:c.63C>A |
| Hb Name: | Hb Brugg | Protein Info: | α1 20(B1) His>Gln |
Context nucleotide sequence:
CCGCCTGGGGTAAGGTCGGCGCGCA [A/C] GCTGGCGAGTATGGTGCGGAGGCCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAQAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Le Lamentin
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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: | 37642 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Swiss, African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009
- Rizzi M, Zurbriggen K, Schmid M, Goede JS, Nardi MA, Schmugge M, Speer O, A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]., Hemoglobin , 35(4), 417-22, 2011
Created on 2014-01-10 14:14:42,
Last reviewed on 2020-01-31 09:59:12 (Show full history)
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