IthaID: 741

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 126 GAC>GGC [Asp>Gly] HGVS Name: HBA1:c.380A>G | HBA2:c.380A>G
Hb Name: Hb West One Protein Info: α2 or α1 126(H9) Asp>Gly

Context nucleotide sequence:

Protein sequence:


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34414 or 38225
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: Increased 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: Egyptian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Jorge SB, Melo MB, Costa FF, Sonati MF, Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism., Braz. J. Med. Biol. Res. , 36(11), 1471-4, 2003 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 09:36:47 (Show full history)

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