IthaID: 76


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 16 GGC>GGT [Gly>Gly] HGVS Name: HBB:c.51C>T
Hb Name: N/A Protein Info: β 16 Gly>Gly

Also known as:

Comments: This mutation creates a donor site (GT dinucleotides) with similar consensus sequences in the Hb E mutation [codon 26 (G>A)], which activates the existing cryptic site in exon 1.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70645
Size: 1 bp
Located at: β
Specific Location: Exon 1

Other details

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

Frequencies

Publications / Origin

  1. Nadkarni A, Gorakshakar A, Surve R, Sawant P, Phanasgaonkar S, Nair S, Ghosh K, Colah RB, Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population., Hemoglobin, 33(1), 59-65, 2009
Created on 2010-06-16 16:13:14, Last reviewed on 2014-03-06 12:07:05 (Show full history)

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