IthaID: 413
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| 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
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34425 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Indian-Pakistani |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Frequencies
Publications / Origin
- 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
- 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
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-06-04 10:16:07 (Show full history)
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