IthaID: 2490
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 119 GGC>AGC [Gly>Ser] | HGVS Name: | HBB:c.358G>A |
| Hb Name: | Hb Madison-NC | Protein Info: | β 119(GH2) Gly>Ser |
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFSKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71932 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Kutlar F, Unguru Y, Dixon N, Patel N, Bailey L, Zhuang L, Carmichael H, Kutlar A, Two New Hemoglobin Variants: Hb Tallahassee [α3(A1)Ser→Tyr; HBA2: c.11C>A] and Hb Madison-NC [β119(GH2)Gly→Ser; HBB: c.358G>A]., Hemoglobin , 38(3), 207-10, 2014
Created on 2014-06-04 17:05:23,
Last reviewed on 2018-02-22 18:19:49 (Show full history)
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