IthaID: 3031



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: IVS II-1 G>A HGVS Name: HBA1:c.300+1G>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAAG [G>A] TGAGCGGCGGGCCGGGAGCGATCT (Strand: +)

Comments: Patient presented with hypochromic haemolytic anaemia, resulting from abnormal RNA splicing sites owing to a missense at the splice donor site.

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37997
Size: 1 bp
Located at: α1
Specific Location: Intron 2

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: Splice junction (mRNA Processing)
Ethnic Origin: Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H, Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene., Hemoglobin , 40(1), 38-43, 2016 PubMed
Created on 2016-08-26 13:03:40, Last reviewed on (Show full history)

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