IthaID: 2519



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 127 AAG>TAG HGVS Name: HBA2:c.382A>T
Hb Name: N/A Protein Info: α2 127(H10) Lys>Glu

Context nucleotide sequence:
CCCTGCGGTGCACGCCTCCCTGGAC [A/T] AGTTCCTGGCTTCTGTGAGCACCGT (Strand: +)

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34416
Size: 1 bp
Located at: α2
Specific Location: Exon 3

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: Nonsense codon (Translation)
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hamid M, Bokharaei Merci H, Galehdari H, Saberi AH, Kaikhaei B, Mohammadi-Anaei M, Ahmadzadeh A, Shariati G, A Novel Alpha-thalassemia Nonsense Mutation in HBA2: C.382 A > T globin Gene., Arch Iran Med , 17(7), 475-6, 2014 PubMed
Created on 2014-07-15 09:44:47, Last reviewed on (Show full history)

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