IthaID: 229


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 106 (CTG >GTG) Leu to Val HGVS Name: HBB:c.319C>G
Hb Name: Hb L'Aquila Protein Info: β 106(G8) Leu>Val

Context nucleotide sequence:
ACCTCTTATCTTCCTCCCACAGCTC [C/G] TGGGCAACGTGCTGGTCTGTGTGCT (Strand: -)

Also known as: Hb Federico II

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β+
Thalassaemia dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71893
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Amato A, Cappabianca MP, Ponzini D, Rinaldi S, Biagio PD, Foglietta E, Grisanti P, Mastropietro F, Hb L'Aquila [beta106(G8)Leu-->Val, CTG-->GTG]: a novel thalassemic hemoglobin variant., Hemoglobin, 31(3), 375-8, 2007
  2. Grosso M, Palumbo I, Morelli E, Puzone S, Sessa R, Izzo P, Defective mRNA levels are responsible for a beta-thalassemia phenotype associated with Hb Federico II, a novel hemoglobin variant [beta-106 (G8) Leu->Val]., Haematologica , 93(7), 1096-8, 2008
Created on 2010-06-16 16:13:15, Last reviewed on 2016-12-14 10:25:38 (Show full history)

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