IthaID: 2149



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.42946_70654del
Hb Name: Hb Ulsan Protein Info: Gγ-β hybrid (Gγ through 13; β from 21)

Also known as: Hb Gγ-β Ulsan

Comments: γβ hybrid. Crossover between codon 13 (Gγ) and codon 19 (β). The hybrid globin is identical to the normal β-globin protein in size and in sequence except for the eight N-terminal amino acid substitutions introduced from the Gγ-globin component.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 42946
Size: 27.707 kb
Fusion involves: , , δ, β, pseudo β

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:γβ fusion
Stability: N/A
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Fusion
Ethnic Origin: Korean
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Kim SY, Lee SH, Cho SI, Song SH, Hattori Y, Park SK, Song J, Choi Y, Yang M, Park H, Kim SR, Seong MW, Kim JY, Cho HI, Park SS, Molecular identification of the novel Gγ-β hybrid hemoglobin: Hb Gγ-β Ulsan (Gγ through 13; β from 19)., Blood Cells Mol. Dis. , 45(4), 276-9, 2010 PubMed
Created on 2013-09-28 15:45:00, Last reviewed on 2015-12-07 16:51:11 (Show full history)

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