IthaID: 527


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
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:

External Links

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

Publications / Origin

  1. Beretta A, Prato V, Gallo E, Lehmann H, Haemoglobin Torino--alpha-43 (CD1) phenylalanine replaced by valine., Nature , 217(5133), 1016-8, 1968
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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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