IthaID: 830
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 7 GAG>GGG | HGVS Name: | HBB:c.23A>G |
| Hb Name: | Hb G-San José | Protein Info: | β 7(A4) Glu>Gly |
Context nucleotide sequence:
ACCATGGTGCATCTGACTCCTGAGG [A/G] GAAGTCTGCCGTTACTGCCCTGTGG (Strand: -)
Protein sequence:
MVHLTPEGKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70617 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Italian, Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 441 | Hb G-San José | β | D-10 | Dual Kit Program | 28.5 | 4.18 | Clinically normal. Elutes in S Window. | [PDF] | |
| 409 | Hb G-San José | β | D-10 | Dual Kit Program | 31 | 4.17 | Clinically normal. Elutes in S Window. | [PDF] | |
| 442 | Hb G-San José | β | VARIANT | β-thal Short Program | 31.3 | 4.52 | Clinically normal. | [PDF] | |
| 410 | Hb G-San José | β | VARIANT | β-thal Short Program | 34.5 | 4.54 | Clinically normal. | [PDF] | |
| 444 | Hb G-San José | β | VARIANT II | Dual Kit Program | 31.3 | 3.623 | Clinically normal. | [PDF] | |
| 443 | Hb G-San José | β | VARIANT II | β-thal Short Program | 33.3 | 4.6 | Clinically normal. Elutes in S Window. | [PDF] | |
| 412 | Hb G-San José | β | VARIANT II | Dual Kit Program | 32.9 | 3.564 | Clinically normal. | [PDF] | |
| 411 | Hb G-San José | β | VARIANT II | β-thal Short Program | 36.6 | 4.6 | Clinically normal. Elutes in S Window. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Musumeci S, Schilirò G, Pizzarelli G, Tentori L, Marinucci M, Fontanarosa PP, Russo G, Hemoglobin G San José [beta 2 7 (A4) Glu to Gly alpha 2], beta thalassemia, and alpha thalassemia in a Sicilian family., Human genetics, 52(2), 239-47, 1979
Created on 2010-06-16 16:13:16,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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