IthaID: 2528

Names and Sequences

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

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Wädenswil, Hb Burgos

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: 37889
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Egyptian, Spanish
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, 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
  2. Karow A, Eekels JJ, Zurbriggen K, Schmid M, Schmugge M, Speer O, Hb G-Waimanalo [A1] [α64(E13)Asp→Asn; HBA1: c.193 G > A] with Decreased Oxygen Affinity., Hemoglobin, 39(6), 432-4, 2015 PubMed
  3. Kumar R, Mishra S, Uikey RS, Gwal A, Mun A, Bharti PK, Shanmugam R, De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe., J Clin Pathol, 2020 PubMed
Created on 2014-10-09 11:55:54, Last reviewed on 2022-07-08 13:40:48 (Show full history)

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