IthaID: 3564



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: Init CD ATG>ATC [Met>Ile] HGVS Name: HBA2:c.3G>C
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CAGACTCAGAGAGAACCCACCAT [G>C] GTGCTGTCTCCTGCCGACAAGACC (Strand: +)

Protein sequence:
IVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

Comments: Reported in a Chinese young adult and his father in a heterozygous form. They both had a haematological phenotype of mild α+ thalassemia trait with low-normal limit of MCV and normal Hb A2. RNA analysis showed markedly decreased levels of α-globin mRNA and the presence of a small amount of mutant mRNA.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33778
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
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. Lei YL, Sui H, Liu YJ, Pan JJ, Liu YH, Lou JW, Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (AT>AT or : c.3G>C)., Hemoglobin, 43(0), 241-244, 2019 PubMed
Created on 2020-01-31 13:01:26, Last reviewed on 2020-02-03 09:40:11 (Show full history)

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