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
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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-27 13:26:46 (Show full history)
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