IthaID: 2955

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 49-57 (-24bp): (-GCCACGGCTCTGCCCAGGTTAAGG) HGVS Name: HBA2:c.149_172del
Hb Name: Hb Goya Protein Info: α2 49(CE7) - 57(E6) Ser-His-Gly-Ser-Ala-Gln-Val-Lys-Gly->0 AND inserted Ser

Context nucleotide sequence:

Also known as:

Comments: Hb Goya is probably a low affinity Hb variant. The heme group is bound to a His residue (distal His (E7)) that is altered in this variant. Patient presented with low baseline oxygen saturation (87-92%) without cardiac or pulmonary pathology.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34041
Size: 24 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. de la Fuente-Gonzalo F, Nieto JM, Ricard P, Anguita J, Martínez R, Cervera A, Villegas A, González FA, Ropero P, Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies., Clin. Biochem. , 48(10), 662-7, 2015 PubMed
Created on 2016-08-23 11:12:44, Last reviewed on 2016-09-09 11:58:37 (Show full history)

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