IthaID: 854
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 16 GGC>GAC | HGVS Name: | HBB:c.50G>A |
| Hb Name: | Hb J-Baltimore | Protein Info: | β 16(A13) Gly>Asp |
Context nucleotide sequence:
AAGTCTGCCGTTACTGCCCTGTGGG [A/C/G] CAAGGTGAACGTGGATGAAGTTGGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWDKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as: Hb J-Georgia , Hb J-Ireland , Hb J-Trinidad , Hb N-New Haven
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: | 70644 |
| 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: | African | Dutch | English | French | Spanish | Swedish |
| 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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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 85 | Hb J-Baltimore | β | D-10 | Dual Kit Program | 42.9 | 1.52 | Clinically normal. | [PDF] | |
| 86 | Hb J-Baltimore | β | VARIANT | β-thal Short Program | 40.8 | 1.8 | Clinically normal. | [PDF] | |
| 87 | Hb J-Baltimore | β | VARIANT II | β-thal Short Program | 44.8 | 1.83 | Clinically normal. | [PDF] | |
| 88 | Hb J-Baltimore | β | VARIANT II | Dual Kit Program | 43.9 | 1.567 | Clinically normal. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Landin B, Jeppsson JO, Rare beta chain hemoglobin variants found in Swedish patients during HBA1c analysis., Hemoglobin, 17(4), 303-18, 1993
- Arribalzaga K, Ricard MP, Carreño DL, Sanchez J, Gonzalez A, Ropero P, Villegas A, Hb J-Baltimore [beta 16(A13)Gly-->Asp] associated with beta(+)-thalassemia in a Spanish family., Hemoglobin , 20(1), 79-84, 1996
Created on 2010-06-16 16:13:16,
Last reviewed on 2017-04-10 13:07:27 (Show full history)
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