IthaID: 3431



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS I-38 C>T HGVS Name: HBA1:c.95+38C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CCCCTGCTCCGACCCGGGCTCCTCG [C>T] CCGCCCGGACCCACAGGCCACCCTC (Strand: +)

Comments: Detected together with CD 19 (-G) [ithaID=2465] in an Iranian subject with elevated Hb Bart's levels. The effect of this mutation on HBA1 gene expression is unclear as no regulatory sites seem to be involved. No mRNA analysis was performed to determine whether this mutation affects the α-gene expression or is merely a polymorphism.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37712
Size: 1 bp
Located at: α1
Specific Location: Intron 1

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Unknown

Sequence Viewer

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Publications / Origin

  1. Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC, Molecular spectrum of alpha-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects., American journal of hematology, 74(2), 99-103, 2003 PubMed
Created on 2019-05-29 16:49:10, Last reviewed on 2019-05-29 17:15:37 (Show full history)

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