IthaID: 527
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
---|---|---|---|
Common Name: | CD 43 TTC>GTC [Phe>Val] | HGVS Name: | HBA1:c.130T>G | HBA2:c.130T>G |
Hb Name: | Hb Torino | Protein Info: | α2 or α1 43(CE1) Phe>Val |
Context nucleotide sequence:
GTCCTTCCCCACCACCAAGACCTAC [A/G/T] TCCCGCACTTCGACCTGAGCCACGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYVPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 34022 or 37826 |
Size: | 1 bp or 1 bp |
Located at: | α1 or 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, Lebanese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
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
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Beretta A, Prato V, Gallo E, Lehmann H, Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine., Nature , 217(5133), 1016-8, 1968 PubMed
- Prato V, Gallo E, Ricco G, Mazza U, Bianco G, Lehmann H, Haemolytic anaemia due to haemoglobin Torino., Br. J. Haematol. , 19(1), 105-15, 1970 PubMed
- Sansone G, Sciarratta GV, Lang A, Lorkin PA, Lehmann H, A drug-induced haemolytic anaemia due to Hb Torino (alpha43(CD1)Phe replaced by Val). second finding in an Italian family., Acta Haematol. , 56(4), 225-33, 1976 PubMed
- Stratta O, Capaldi A, Rege Cambrin G, Cravetto C, Furlani C, Bertello PD, Izzo P, Rabino-Massa E, Ricco G, A new case of Hb Torino found in a Lebanese woman., Panminerva Med , 24(3), 227-30, 1982 PubMed
- Ricco G, Scaroina F, Burzio P, Bertello PD, Vietti-Ramus G, Gallione S, Gurioli L, Montinaro E, Functional properties of the unstable Hb-Torino: alpha 43 (CD-1) Phe-Val., Boll. Soc. Ital. Biol. Sper. , 61(4), 619-26, 1985 PubMed
- Rabino-Massa E, Tosetti F, Marchisio U, Pio C, Frascisco M, Gurioli L, Oneglia C, Ricco G, Further studies on the oxygen affinity of whole blood containing two different haemoglobins: I. The case of Hb-A associated with one hypoaffine Hb., Boll. Soc. Ital. Biol. Sper. , 62(1), 23-30, 1986 PubMed
- Castagnola M, Dobosz M, Landolfi R, Pascali VL, de Angelis F, Vettore L, Perona G, Determination of neutral haemoglobin variants by immobilized pH gradient, reversed-phase high-performance liquid chromatography and fast-atom bombardment mass spectrometry: the case of a Hb Torino alpha 43 (CE1) Phe----Val., Biol. Chem. Hoppe-Seyler , 369(4), 241-6, 1988 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-18 15:30:51 (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 | 2014-03-18 15:30:51 | The IthaGenes Curation Team | Reviewed. |
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.
IthaGenes was last updated on 2024-09-28 12:00:32