IthaID: 686


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 96 GTC>GAC [Val>Asp] HGVS Name: HBA2:c.290T>A
Hb Name: Hb El Escorial Protein Info: α2 96(G3) Val>Asp

Context nucleotide sequence:
GCGCACAAGCTTCGGGTGGACCCGG [A/T] CAACTTCAAGGTGAGCGGCGGGCCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPDNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34182
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Publications / Origin

  1. Villegas A, Hojas R, González FA, Ropero P, Carreño DL, Hb Clinico-Madrid II [alpha90(FG2)Lys-->Arg (alpha1)] and Hb El Escorial [alpha96(G3)Val-->Asp (alpha2)]: two new a chain variants found during a neonatal period study., Hemoglobin , 27(3), 185-90, 2003
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 15:39:28 (Show full history)

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