IthaID: 632



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 81 TCC>TGC [Ser>Cys] HGVS Name: HBA1:c.245C>G | HBA2:c.245C>G
Hb Name: Hb Nigeria Protein Info: α2 or α1 81(F2) Ser>Cys

Context nucleotide sequence:
GTGGACGACATGCCCAACGCGCTGT [C/G] CGCCCTGAGCGACCTGCACGCGCAC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALCALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34137 or 37941
Size: 1 bp or 1 bp
Located at: α1 or α2
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: Nigerian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Honig GR, Shamsuddin M, Mason RG, Vida LN, Tremaine LM, Tarr GE, Shahidi NT, Hemoglobin Nigeria (alpha-81 Ser replaced by Cys):a new variant associated with alpha-thalassemia., Blood , 55(1), 131-7, 1980 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-10 11:34:16 (Show full history)

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