IthaID: 578



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 60 AAG>AAT HGVS Name: HBA1:c.183G>T
Hb Name: Hb Zambia Protein Info: α1 60(E9) Lys>Asn

Context nucleotide sequence:
CTGCCCAGGTTAAGGGCCACGGCAA [G/T] AAGGTGGCCGACGCGCTGACCAACG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGNKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 29-year-old female Afghan patient with compound heterozygosity in cis with the HBA1:c184A>T,p.Lys62* [IthaID: 3334] in addition to the common deletions α4.2 and α3.7, leading to non-deletional Hb H genotype. She received regular blood transfusions since her childhood [PMID: 29739111, info only from abstract].

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37879
Size: 1 bp
Located at: α2, α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Zambian, Afghan
Molecular mechanism: N/A
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 2021-03-11 14:32:25 (Show full history)

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