IthaID: 3612



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 127 AAG>ATG [Lys>Met] HGVS Name: HBA2:c.383A>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCTGCGGTGCACGCCTCCCTGGACA [A>T] GTTCCTGGCTTCTGTGAGCACCGTG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDMFLASVSTVLTSKYR

Also known as:

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

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: 34417
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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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 PubMed
Created on 2020-08-10 12:17:03, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.