IthaID: 1177
Names and Sequences
| Functionality: | Globin gene causative mutation | ||
|---|---|---|---|
| Common Name: | CD 109 GTG>ATG | HGVS Name: | HBB:c.328G>A |
| Hb Name: | Hb San Diego | Protein Info: | β 109(G11) Val>Met |
Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [A/C/G/T] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNMLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71902 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Anglo-Saxon | Caucasian | Japanese | Philippine | West Indian |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
| Detection Methods: | Direct DNA sequencing |
Sequence Viewer
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Publications / Origin
- Nakatsuji I, Wilson JB, Lam H, Huisman TH, Identification and quantitation of Hb Olympia [beta 20(B2)Val leads to Met] and Hb San Diego [beta 109(G11)Val leads to Met] by high-performance liquid chromatography., Journal of chromatography, 259(3), 511-4, 1983 PubMed
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 2019-04-17 17:10:23