IthaID: 3599



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 13 GCC>TCC [Ala>Ser] HGVS Name: HBA2:c.40G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TGCCGACAAGACCAACGTCAAGGCC [G>T] CCTGGGGTAAGGTCGGCGCGCACGC (Strand: +)

Protein sequence:
MVLSPADKTNVKASWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Reported during an epidemiological survey in two unrelated individuals in the Guangxi Zhuang Autonomous Region. The HbA2 level was 1.97% in one carrier state, and 4.47% in another individual who was heterozygous for both this α-globin variant and a β0-thalassaemia mutation (HBB:c.52A>T).

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33815
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype: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

Sequence Viewer

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Publications / Origin

  1. Xiong F, Sun M, Zhang X, Cai R, Zhou Y, Lou J, Zeng L, Sun Q, Xiao Q, Shang X, Wei X, Zhang T, Chen P, Xu X, Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China., Clin. Genet., 78(2), 139-48, 2010 PubMed
Created on 2020-07-01 08:35:18, Last reviewed on (Show full history)

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