IthaID: 558
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 53 GCC>GAC [Ala>Asp] | HGVS Name: | HBA2:c.161C>A |
| Hb Name: | Hb J-Rovigo | Protein Info: | α2 53(E2) Ala>Asp |
Context nucleotide sequence:
CACTTCGACCTGAGCCACGGCTCTG [C/A] CCAGGTTAAGGGCCACGGCAAGAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSDQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 34053 |
| 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, Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Alberti R, Mariuzzi GM, Artibani L, Bruni E, Tentori L, A new haemoglobin variant: J-Rovigo alpha 53 (E-2) alanine leads to aspartic acid., Biochim. Biophys. Acta , 342(1), 1-4, 1974 PubMed
- Moo-Penn WF, Jue DL, Baine RM, Hemoglobin J Rovigo (alpha53 Ala replaced by Asp) in association with beta-thalassemia., Hemoglobin , 2(5), 443-5, 1978 PubMed
- Wenning MR, Kimura EM, Jorge SB, Costa FF, Sonati MF, Molecular characterization of hemoglobins Kurosaki [alpha7 Lys-->Glu], G-Pest [alpha74 Asp-->Asn], Stanleyville-II [alpha78 Asn-->Lys] and J-Rovigo [alpha53 Ala-->Asp]., Acta Haematol. , 102(4), 203-5, 1999 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 10:57:40 (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 | 2014-03-28 14:15:07 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2021-04-07 10:57:40 | The IthaGenes Curation Team | Reviewed. HGVS, protein name and Locus location corrected. Reference added. |
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IthaGenes was last updated on 2024-04-24 11:43:02