IthaID: 3298



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 60-61 (-6bp): (-TGAAGG) HGVS Name: HBB:c.182_187delTGAAGG
Hb Name: Hb Tavapy Protein Info: N/A

Comments: Found as a heterozygote. The deletion results in loss of the valine and lysine of codons 60 and 61, which correpond to positions 4 and 5 of the 'E' α-helix of the β-globin chain, respectively.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70906
Size: 6 bp
Located at: β
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Paraguayan
Inheritance: Dominant
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Scheps KG, Hasenahuer MA, Parisi G, Targovnik HM, García E, Veber ES, Crisp R, Elena G, Varela V, Fornasari MS, Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain., Eur. J. Haematol. , 2018 PubMed
Created on 2018-01-22 18:47:38, Last reviewed on (Show full history)

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