IthaID: 3034


Names and Sequences

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

Also known as:

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.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

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

Location

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

Other details

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

In silico pathogenicity prediction

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
Created on 2016-08-26 13:50:53, Last reviewed on 2018-02-06 18:47:15 (Show full history)

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