IthaID: 1176
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 109 GTG>CTG or TTG | HGVS Name: | HBB:c.328G>C | HBB:c.328G>T |
| Hb Name: | Hb Johnstown | Protein Info: | β 109(G11) Val>Leu |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTTCCTCCCACAGCTCCTGGGCAAC [A/C/G/T] TGCTGGTCTGTGTGCTGGCCCATCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNLLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Caucasian | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Jones RT, Saiontz HI, Head C, Shih DT, Fairbanks VF, Hb Johnstown [beta 109 (G11) Val----Leu]: a new electrophoretically silent variant that causes erythrocytosis., Hemoglobin, 14(2), 147-56, 1990
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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