IthaID: 3334


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 61 AAG>TAG [Lys>STOP] HGVS Name: HBA1:c.184A>T
Hb Name: N/A Protein Info: N/A

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKX

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available 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: 37880
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Afghan
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Holtkamp N, Pistioli A, Rasenack T, Kiesewetter H, Heinze KG, Identification of a Novel Nonsense Mutation in a Patient with Transfusion-Dependent Hb H Disease., Clin. Lab. , 64(3), 371-374, 2018
Created on 2018-05-23 19:31:09, Last reviewed on (Show full history)

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