IthaID: 468

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 16 AAG>ATG [Lys>Met] HGVS Name: HBA1:c.50A>T | HBA2:c.50A>T
Hb Name: Hb Harbin Protein Info: α2 or α1 16(A14) Lys>Met

Context nucleotide sequence:

Protein sequence:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 33825 or 37629
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 1


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Zeng YT, Huang SZ, Qiu XK, Cheng GC, Ren ZR, Jin QC, Chen CY, Jiao CT, Tang ZG, Liu RH, Hemoglobin Chongqing [alpha 2(NA2)Leu----Arg] and hemoglobin Harbin [alpha 16(A14)Lys----Met] found in China., Hemoglobin , 8(6), 569-81, 1984 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 17:15:03 (Show full history)

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