IthaID: 3613


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 129 CTG>CGG [Leu>Arg] HGVS Name: HBA2:c.389T>G
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GTGCACGCCTCCCTGGACAAGTTCC [T>G] GGCTTCTGTGAGCACCGTGCTGACC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFRASVSTVLTSKYR

Also known as:

Comments: Detected during thalassemia screening in one person originating from Mazandaran province.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:N/A
Associated Phenotypes: N/A

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34423
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Hashemi-Soteh SMB, Karami H, Mousavi SS, Farazmandfar T, Tamadoni A, Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran., J. Clin. Lab. Anal., 34(1), e23018, 2020
Created on 2020-08-10 12:22:28, Last reviewed on (Show full history)

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