IthaID: 3624


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 60 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.182A>G
Hb Name: Hb Liuzhou Protein Info: α1 60(E9) Lys>Glu

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGEKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Found in a 23-year old Chinese woman with no clinical and hematological presentation.

External Links

No available links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37878
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: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Xu A, Chen W, Xie W, Ji L, Identification of a new hemoglobin variant Hb Liuzhou [:C.182A→G] by MALDI-TOF mass spectrometry during HbA measurement., Scand. J. Clin. Lab. Invest., 2020
Created on 2020-09-08 11:20:32, Last reviewed on 2020-09-09 12:27:16 (Show full history)

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