IthaID: 2311



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 91 CTT>TTT [Leu>Phe] HGVS Name: HBA2: c.274C>T
Hb Name: Hb Treviso Protein Info: α2 91(FG3) Leu>Phe

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKFRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34166
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Inheritance: N/A
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Barberio G, Leone D, Ivaldi G, Giordano PC, Hb Treviso [α91(FG3)Leu→Phe (α2)]: a new slightly unstable hemoglobin variant with moderately decreased oxygen affinity., Hemoglobin , 37(2), 107-11, 2013 PubMed
Created on 2014-01-10 11:19:46, Last reviewed on 2014-01-10 11:19:46 (Show full history)

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