IthaID: 150



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 43 (GAG>TAG) HGVS Name: HBB:c.130G>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CTACCCTTGGACCCAGAGGTTCTTT [A/C/G/T] AGTCCTTTGGGGATCTGTCCACTCC (Strand: -)

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFX

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: β-thalassaemia
Allele Phenotype:β0
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70854
Size: 1 bp
Located at: β
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Frequencies

Publications / Origin

  1. Atweh GF, Brickner HE, Zhu XX, Kazazian HH, Forget BG, New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo., The Journal of clinical investigation, 82(2), 557-61, 1988 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:28:32 (Show full history)

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