IthaID: 2538


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 25 GGT>GAT [Gly>Asp] HGVS Name: HBA2:c.77G>A
Hb Name: Hb Cibeles Protein Info: α2 25(B6) Gly>Asp

Context nucleotide sequence:
GGTCGGCGCGCACGCTGGCGAGTATG [G/A] TGCGGAGGCCCTGGAGAGGTGAGGCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYDAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a heterozygous state. In the Hb Cibeles, an apolar amino acid [Gly] is replaced by a negatively charged amino acid [Asp], leading to an unastable Hb molecule.

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33852
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. de la Fuente-Gonzalo F, Nieto JM, Vinuesa L, Sevilla J, Díaz-Mediavilla J, Villegas A, González FA, Ropero P, Hb Cibeles [α2 CD25(B6) (Gly → Asp)]: a novel alpha chain variant causing alpha-thalassemia., Int. J. Hematol. , 2014
Created on 2014-10-10 10:35:09, Last reviewed on 2019-04-04 16:08:28 (Show full history)

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