IthaID: 578

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 60 AAG>AAC or AAT [Lys>Asn] HGVS Name: HBA1:c.183G>C | HBA1:c.183G>T | HBA2:c.183G>C | HBA2:c.183G>T
Hb Name: Hb Zambia Protein Info: α2 or α1 60(E9) Lys>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34075 or 37879
Size: 1 bp or 1 bp
Located at: α1 or α2
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: Zambian, Afghan
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Barclay GP, Charlesworth D, Lehmann H, Abnormal haemoglobins in Zambia. A new haemoglobin Zambia alpha-60 (E9) lysine--asparagine., Br Med J , 4(5683), 595-6, 1969 PubMed
  2. Holtkamp N, Pistioli A, Rasenack T, Kiesewetter H, Heinze KG, Identification of a Novel Nonsense Mutation in a Patient with Transfusion-Dependent Hb H Disease., Clin. Lab. , 64(3), 371-374, 2018 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2018-05-23 19:21:03 (Show full history)

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