IthaID: 988
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 56 GGC>GAC | HGVS Name: | HBB:c.170G>A |
| Hb Name: | Hb J-Bangkok | Protein Info: | β 56(D7) Gly>Asp |
Context nucleotide sequence:
CTGTCCACTCCTGATGCTGTTATGG [A/G] CAACCCTAAGGTGAAGGCTCATGGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMDNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb J-Korat , Hb J-Manado , Hb J-Meinung
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70894 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | African | Chinese | Indonesian | Thai |
| 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.
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 281 | Hb J-Bangkok | β | D-10 | Dual Kit Program | 39.8 | 1.68 | heterozygote | [PDF] | |
| 282 | Hb J-Bangkok | β | VARIANT | β-thal Short Program | 38.7 | 1.9 | heterozygote | [PDF] | |
| 356 | Hb J-Bangkok | β | VARIANT II | Dual Kit Program | 26.4 | 1.7 | Clinically normal. Rare but found worldwide. | [PDF] | |
| 355 | Hb J-Bangkok | β | VARIANT II | β-thal Short Program | 34.5 | 2.02 | Clinically normal. Rare but found worldwide. | [PDF] | |
| 284 | Hb J-Bangkok | β | VARIANT II | Dual Kit Program | 32.3 | 1.66 | heterozygote | [PDF] | |
| 283 | Hb J-Bangkok | β | VARIANT II | β-thal Short Program | 38.7 | 1.92 | heterozygote | [PDF] |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- Clegg JB, Naughton MA, Weatherball DJ, Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography, and the determination of two new variants, hb Chesapeak and hb J (Bangkok)., Journal of molecular biology, 19(1), 91-108, 1966
- Pootrakul S, Wasi P, Na-Nakorn S, Haemoglobin J-Bangkok: a clinical, haematological and genetical study., Br. J. Haematol. , 13(3), 303-9, 1967
- Chang JG, Shih MC, Liu SC, Chen CM, Chan WL, Lee TP, Peng CT, Hb G-Honolulu [alpha30(B11)Glu-->Gln (alpha2)], Hb J-Meinung [beta56(D7)Gly-->Asp], and beta-thalassemia [codons 41/42 (-TCTT)] in a Taiwanese family., Hemoglobin , 26(3), 325-8, 2002
Created on 2010-06-16 16:13:16,
Last reviewed on 2017-04-11 16:24:20 (Show full history)
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