IthaID: 2485


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 77 CCC>TCC [Pro>Ser] HGVS Name: HBA1:c.232C>T
Hb Name: Hb Nile Protein Info: α1 77(EF6) Pro>Ser

External Links

No available links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 37928
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Phenotype

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

Other details

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

Publications / Origin

  1. van Zwieten R, Kaufmann JO, Vuil H, Kouwenberg J, Verhoeven AJ, Fogelberg K, Harteveld CL, Giordano PC, Hb Nile[A1] and Hb Nile[A2]: novel identical [alpha77(EF6)Pro-->Ser] variants found in either the alpha1- or alpha2-globin genes., Hemoglobin , 33(3), 188-95, 2009
Created on 2014-06-04 16:03:13, Last reviewed on (Show full history)

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