IthaID: 413



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 130 GCT>CCT [Ala>Pro] HGVS Name: HBA2:c.391G>C
Hb Name: Hb Sun Prairie Protein Info: α2 130(H13) Ala>Pro

Context nucleotide sequence:
GCACGCCTCCCTGGACAAGTTCCTG [C/G] CTTCTGTGAGCACCGTGCTGACCTC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLPSVSTVLTSKYR

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34425
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

Sequence Viewer

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Frequencies

Publications / Origin

  1. Harkness M, Harkness DR, Kutlar F, Kutlar A, Wilson JB, Webber BB, Codrington JF, Huisman TH, Hb Sun Prairie or alpha(2)130(H13)Ala----Pro beta 2, a new unstable variant occurring in low quantities., Hemoglobin, 14(5), 479-89, 1990 PubMed
  2. Passarello C, Giambona A, Prossomariti L, Ammirabile M, Pucci P, Renda D, Pagano L, Maggio A, Hb Southern Italy: coexistence of two missence mutations (the Hb Sun Prairie alpha2 130 Ala --> Pro and Hb Caserta alpha2 26 Ala --> Thr) in a single HBA2 gene., Br. J. Haematol. , 143(1), 138-42, 2008 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2014-06-04 10:16:07 (Show full history)

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