IthaID: 86
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 24 GGT>GGA [Gly>Gly] | HGVS Name: | HBB:c.75T>A |
| Hb Name: | N/A | Protein Info: | β 24(B6) Gly>Gly |
Context nucleotide sequence:
GCAAGGTGAACGTGGATGAAGTTGG [A/G/T] GGTGAGGCCCTGGGCAGGTTGGTAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | β++ |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70669 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Cryptic splice site (mRNA Processing) |
| Ethnic Origin: | African-American, Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Goldsmith ME, Humphries RK, Ley T, Cline A, Kantor JA, Nienhuis AW, "Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA., Proceedings of the National Academy of Sciences of the United States of America, 80(8), 2318-22, 1983
- Gonzalez-Redondo JM, Stoming TA, Lanclos KD, Gu YC, Kutlar A, Kutlar F, Nakatsuji T, Deng B, Han IS, McKie VC, Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States., Blood, 72(3), 1007-14, 1988
- Hattori Y, Yamane A, Yamashiro Y, Matsuno Y, Yamamoto K, Yamamoto K, Ohba Y, Miyaji T, Characterization of beta-thalassemia mutations among the Japanese., Hemoglobin, 13(7), 657-70, 1989
Created on 2010-06-16 16:13:14,
Last reviewed on 2024-03-07 11:19:43 (Show full history)
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