IthaID: 372


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 39-41 (-9 bp, + 8 bp) HGVS Name: NG_000006.1:g.34010_34018delinsTACTTCCC
Hb Name: N/A Protein Info: N/A

Also known as:

Comments: A deletion of 9 bp (codons 39–41) is replaced by an eight nucleotide insertion, duplicating the adjacent downstream sequence. It results in a premature stop of α2-globin synthesis at codon 48 (TGA).

External Links

No available links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: α-thalassaemia
Allele Phenotype:α⁺
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34010
Size: 9 bp
Located at: α2
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Yemenite-Jewish
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

Publications / Origin

  1. Oron-Karni V, Filon D, Rund D, Oppenheim A, A novel mechanism generating short deletion/insertions following slippage is suggested by a mutation in the human alpha2-globin gene., Hum. Mol. Genet. , 6(6), 881-5, 1997
Created on 2010-06-16 16:13:15, Last reviewed on 2020-03-30 16:53:55 (Show full history)

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