IthaID: 1192
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 115 GCC>CCC | HGVS Name: | HBB:c.346G>C |
| Hb Name: | Hb Madrid | Protein Info: | β 115(G17) Ala>Pro |
Context nucleotide sequence:
GGGCAACGTGCTGGTCTGTGTGCTG [C/G] CCCATCACTTTGGCAAAGAATTCAC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLPHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71920 |
| 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: | African Korean | Spanish |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Outeirino J, Casey R, White JM, Lehmann H, Haemoglobin Madrid beta 115 (G17) alanine--proline: an unstable variant associated with haemolytic anaemia., Acta haematologica, 52(1), 53-60, 1974
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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