IthaID: 2395



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 93 TGT>CGT [Cys>Arg] HGVS Name: HBG2:c.280T>C
Hb Name: Hb F-Monserrato-Sassari Protein Info: Gγ 93(F9) Cys>Arg

Context nucleotide sequence:
CTTTGCCCAGCTGAGTGAACTGCAC [C/T] GTGACAAGCTGCATGTGGATCCTGA (Strand: -)

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 43289
Size: 1 bp
Located at:
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pellegrini M, Manconi B, Olianas A, Sanna MT, Meloni C, Pirastru M, Mereu P, Leoni G, Masala B, Manca L, Functional properties of the newly observed (G)γ-chain fetal hemoglobin variant Hb F-Monserrato-Sassari (HBG2:c.280T>C) or [(G)γ93 (F9) Cys→Arg]., Biochim. Biophys. Acta , 1810(12), 1272-7, 2011 PubMed
Created on 2014-05-27 09:53:17, Last reviewed on (Show full history)

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