IthaID: 476
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 20 CAC>GAC [His>Asp] | HGVS Name: | HBA2:c.61C>G |
| Hb Name: | Hb Nikaia | Protein Info: | α2 20(B1) His>Asp |
Context nucleotide sequence:
GGCCGCCTGGGGTAAGGTCGGCGCG [C/G/T] ACGCTGGCGAGTATGGTGCGGAGGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGADAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 33836 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Préhu C, Godart C, Riou J, Soummer AM, Promé D, Galactéros F, Wajcman H, Hb Nikaia [alpha20(B1)His-Asp]: a new variant of the alpha2 gene., Hemoglobin , 24(4), 305-9, 2000
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 17:44:44 (Show full history)
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