IthaID: 3380



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 127 AAG>GAG [Lys>Glu] HGVS Name: HBA1:c.382A>G
Hb Name: Hb Shantou Protein Info: α1 127(H10) Lys>Glu

Context nucleotide sequence:
CCCCTGCGGTGCACGCCTCCCTGGAC [A>G] AGTTCCTGGCTTCTGTGAGCACCG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDEFLASVSTVLTSKYR

Comments: Found as a heterozygote. This mutation does not seem to affect the stability nor the function of the variant. Its chromatographic profile suggests a probable interference during the monitoring of glycated haemoglobin (HbA1c).

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 38227
Size: 1 bp
Located at: α1
Specific Location: Exon 3

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

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: Yes
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Xu A, Lei J, Li J, Chen W, Zhou Y, Zheng R, Ji L, Falsely high HbA value due to a novel α1-globin gene mutation: Hb shantou [α127(H10)Lys > Glu; HBA1: c.382 A > G]., Scand. J. Clin. Lab. Invest., 78(0), 621-625, 2018 PubMed
Created on 2019-04-08 10:51:15, Last reviewed on 2019-05-09 13:25:16 (Show full history)

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