IthaID: 1177
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| 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 [G>A] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNMLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Autosomal dominant variant for erythrocytosis, familial, 6 (MONDO:0054801).
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71902 |
| 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: | Anglo-Saxon | Caucasian | Japanese | Philippine | West Indian |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
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
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-10-24 10:16:39 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.