IthaID: 2547

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 64 GAC>AAC [Asp>Asn] HGVS Name: HBA1:c.193G>A
Hb Name: Hb Burgos Protein Info: α1 64(E13) Asp>Asn

Context nucleotide sequence:

Also known as:

External Links

No available links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37889
Size: 1 bp
Located at: α1
Specific Location: Exon 2


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

Other details

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

Sequence Viewer

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Publications / Origin

  1. de la Fuente-Gonzalo F, Martínez Nieto J, Torrejón MJ, Mayor LA, Velasco D, González Fernández FA, Ropero Gradilla P, [Hb Burgos (α1 CD64(E13)(Asp→Asn)): A new hemoglobin variant detected during follow-up of diabetic patients]., Med Clin (Barc) , 144(1), 26-9, 2015 PubMed
Created on 2015-01-09 10:42:29, Last reviewed on (Show full history)

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