IthaID: 3034



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 137 GTG>TGG [Val>Trp] HGVS Name: HBB:c.412_413delinsTG
Hb Name: Hb Allentown Protein Info: N/A

Comments: Hb Allentown is formed by a rare double nucleotide substitution within the same codon. The variant was unstable with both heat and isopropanol tests.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71986
Size: 2 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Puerto Rican
Inheritance: N/A
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Collier AB, Coon LM, Monteleone P, Umaru S, Swanson KC, Hoyer JD, Oliveira JL, A Novel β-Globin Chain Hemoglobin Variant, Hb Allentown [β137(H15)Val→Trp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly., Hemoglobin , 40(2), 130-3, 2016 PubMed
Created on 2016-08-26 13:50:53, Last reviewed on 2018-02-06 18:47:15 (Show full history)

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