IthaID: 1396



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.[63249_70661del;63571_70985dup]
Hb Name: Hb Parchman Protein Info: δβδ hybrid (δ through 12; β from 22) AND β-δ hybrid (β through 50; δ from 86)

Also known as: δβδ hybrid

Comments: δβδ hybrid, the result of a double crossover, and could have arisen by gene conversion. δ through codon 12, β from codons 22-50, δ from codon 22.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63249
Size: 7.41 kb
Fusion involves: δ, β

Phenotype

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

Other details

Type of Mutation: Fusion
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Adams JG, Morrison WT, Steinberg MH, Hemoglobin Parchman: double crossover within a single human gene., Science (New York, N.Y.), 218(4569), 291-3, 1982 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-07 15:28:46 (Show full history)

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