IthaID: 3599



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 13 GCC>TCC [Ala>Ser] HGVS Name: HBA2:c.40G>T
Hb Name: Hb Binyang Protein Info: α2 13(A11) Ala>Ser

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

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, 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: 33815
Size: 1 bp
Located at: α2
Specific Location: Exon 1

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

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
  2. Shang X, Peng Z, Ye Y, Asan , Zhang X, Chen Y, Zhu B, Cai W, Chen S, Cai R, Guo X, Zhang C, Zhou Y, Huang S, Liu Y, Chen B, Yan S, Chen Y, Ding H, Yin X, Wu L, He J, Huang D, He S, Yan T, Fan X, Zhou Y, Wei X, Zhao S, Cai D, Guo F, Zhang Q, Li Y, Zhang X, Lu H, Huang H, Guo J, Zhu F, Yuan Y, Zhang L, Liu N, Li Z, Jiang H, Zhang Q, Zhang Y, Juhari WKW, Hanafi S, Zhou W, Xiong F, Yang H, Wang J, Zilfalil BA, Qi M, Yang Y, Yin Y, Mao M, Xu X, Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies., EBioMedicine, 23(0), 150-159, 2017 PubMed
Created on 2020-07-01 08:35:18, Last reviewed on 2021-09-23 11:34:36 (Show full history)

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