
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:
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 |
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)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2021-03-05 12:55:33