IthaID: 2468


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 44 +C HGVS Name: HBA1:c.134_135insC
Hb Name: N/A Protein Info: α1 44(+C); modified C-terminal sequence: (44)Pro-Ala-Leu-Arg-Pro-Glu-Pro-Arg-Leu-Cys- Pro-Gly-(56)COOH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External 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: 37830
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Iranian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, Imanian H, Khosravi M, Azar-Keivan A, Najmabadi H, Novel mutations responsible for α-thalassemia in Iranian families., Hemoglobin , 37(2), 148-59, 2013
Created on 2014-06-03 16:20:01, Last reviewed on (Show full history)

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