IthaID: 549
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 50 CAC>GAC [His>Asp] | HGVS Name: | HBA2:c.151C>G |
| Hb Name: | Hb J-Sardegna | Protein Info: | α2 50(CE8) His>Asp |
Context nucleotide sequence:
CTACTTCCCGCACTTCGACCTGAGC [C/G/T] ACGGCTCTGCCCAGGTTAAGGGCCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSDGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The substitution at the DNA level was found to be CAC>AAC which corresponds to Asn. As a consequence of a very efficient deamidation an Asp is found at the protein level.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34043 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian, Sardinian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 293 | Hb J-Sardegna | α2 | D-10 | Dual Kit Program | 36.1 | 0.46 | Heterozygote. Elutes together with HbF. | [PDF] | |
| 133 | Hb J-Sardegna | α2 | D-10 | Dual Kit Program | 30 | 0.51 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | |
| 294 | Hb J-Sardegna | α2 | VARIANT | β-thal Short Program | 34.8 | 1.18 | Heterozygote. Elutes together with HbF. | [PDF] | |
| 134 | Hb J-Sardegna | α2 | VARIANT | β-thal Short Program | 29.3 | 1.28 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | |
| 295 | Hb J-Sardegna | α2 | VARIANT II | β-thal Short Program | 34.3 | 1.19 | Heterozygote. Elutes together with HbF. | [PDF] | |
| 136 | Hb J-Sardegna | α2 | VARIANT II | Dual Kit Program | 25.4 | 0.676 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] | |
| 135 | Hb J-Sardegna | α2 | VARIANT II | β-thal Short Program | 30.3 | 1.24 | Heterozygous. Elutes with HbF. DNA sequencing showed that the mutation leads to an Asn which is totally deamidated. | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Tangheroni W, Zorcolo G, Gallo E, Lehmann H, Haemoglobin J Sardegna: alpha 50(CD 8) histidine -aspartic acid., Nature , 218(5140), 470-1, 1968 PubMed
- Tangheroni W, Zorcolo G, Gallo E, Lehmann H, A new haemoglobin: Hb J Sardegna (alpha50 histidine--aspartic acid)., Helv Paediatr Acta , 24(2), 174-82, 1969 PubMed
- Gallo E, Pugliatti L, Ricco G, Pich PG, Pinna G, Mazza U, A case of haemoglobin J Sardegna- -thalassaemia double heterozygosis., Acta Haematol. , 47(5), 311-20, 1972 PubMed
- Meloni T, Pilo G, Camardella L, Cancedda F, Lania A, Pepe G, Luzzatto L, Coexistence of three hemoglobins with different alpha-chains in two unrelated children (with family studies indicating polymorphism in the number of alpha-globin genes in the Sardinian population)., Blood , 55(6), 1025-32, 1980 PubMed
- Paleari R, Paglietti E, Mosca A, Mortarino M, Maccioni L, Satta S, Cao A, Galanello R, Posttranslational deamidation of proteins: the case of hemoglobin J Sardegna [alpha50(CD8)His-->Asn-->Asp]., Clin. Chem. , 45(1), 21-8, 1999 PubMed
- Corda M, De Rosa MC, Pellegrini MG, Sanna MT, Olianas A, Fais A, Manca L, Masala B, Zappacosta B, Ficarra S, Castagnola M, Giardina B, Adult and fetal haemoglobin J-Sardegna [alpha50(CE8)His-->Asp]: functional and molecular modelling studies., Biochem. J. , 346(0), 193-9, 2000 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-27 13:26:46 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-03-27 13:26:46 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-04-18 10:10:45