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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GTCCTTCCCCACCACCAAGACCTAC [A/G/T] TCCCGCACTTCGACCTGAGCCACGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYVPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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
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
- 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
- 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
- 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
- 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
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-18 15:30:51 (Show full history)
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