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.

External Links

HbVar	dbSNP
dbSNP	OMIM

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]

IthaPhen

Heterozygous records (preview in IthaPhen)

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

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.

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