IthaID: 1060
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 77 CAC>CGC [His>Arg] | HGVS Name: | HBB:c.233A>G |
| Hb Name: | Hb Costa Rica | Protein Info: | β 77(EF1) His>Arg |
Context nucleotide sequence:
GGTGCCTTTAGTGATGGCCTGGCTC [A/C/G/T] CCTGGACAACCTCAAGGGCACCTTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLARLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70957 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Costa Rican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Rodriguez Romero WE, Castillo M, Chaves MA, Saenz GF, Gu LH, Wilson JB, Baysal E, Smetanina NS, Leonova JY, Huisman TH, Hb Costa Rica or alpha 2 beta 2 77(EF1)His --> Arg: the first example of a somatic cell mutation in a globin gene., Human genetics, 97(6), 829-33, 1996
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-10-09 12:43:02 (Show full history)
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