IthaID: 1401



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: NG_000007.3:g.63249_70661dup
Hb Name: Hb Miyada Protein Info: β-δ hybrid (β through 12; δ from 22)

Also known as: Hb Anti-Lepore Miyada

Comments: Anti-Lepore βδ hybrid. Crossover between codon 12 (β) and codon 22 (δ).

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63249
Size: 7.412 kb
Located at: 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: Duplication
Ethnic Origin: Japanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Ohta Y, Yamaoka K, Sumida I, Yanase T, Haemoglobin Miyada, a beta-delta fusion peptide (anti-Lepore) type discovered in a Japanese family., Nature: New biology, 234(50), 218-20, 1971 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-07 16:25:58 (Show full history)

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