IthaID: 238



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 114 (-CT, +G) >156aa HGVS Name: HBB:c.343_344delinsG
Hb Name: Hb Geneva Protein Info: β 114 (-CT); modified C-terminal sequence AND β 114(+G); modified C-terminal sequence

Context nucleotide sequence:
CCTGGGCAACGTGCTGGTCTGTGTG [CT/G] GGCCCATCACTTTGGCAAAGAATTC (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71917
Size: 2 bp
Located at: β
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:Thalassaemia dominant
Dominant
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Swiss-French, Swiss
Inheritance: Dominant
DNA Sequence Determined: No
Detection Methods: MLPA

Sequence Viewer

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Publications / Origin

  1. Beris P, Miescher PA, Diaz-Chico JC, Han IS, Kutlar A, Hu H, Wilson JB, Huisman TH, Inclusion body beta-thalassemia trait in a Swiss family is caused by an abnormal hemoglobin (Geneva) with an altered and extended beta chain carboxy-terminus due to a modification in codon beta 114., Blood, 72(2), 801-5, 1988 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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