IthaID: 564



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 56 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.169A>G | HBA2:c.169A>G
Hb Name: Hb Shaare Zedek Protein Info: α2 or α1 56(E5) Lys>Glu

Context nucleotide sequence:
CCTGAGCCACGGCTCTGCCCAGGTT [A/G] AGGGCCACGGCAAGAAGGTGGCCGA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVEGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

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: 34061 or 37865
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Jewish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Sequence Viewer

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Publications / Origin

  1. Abramov A, Lehmann H, Robb L, Hb Shaare Zedek (alpha 56 E5 Lys leads to Glu)., FEBS Lett. , 113(2), 235-7, 1980 PubMed
  2. Li Y, Tian M, Qin T, Wan L, Capillary Electrophoresis Resolves Inconclusive HPLC Analysis for Hemoglobin Variants: a Study of Two Cases., Clin Lab, 64(7), 1305-1309, 2018 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-31 10:31:22 (Show full history)

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