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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-03-18 13:11:33 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-06-04 10:13:16 | The IthaGenes Curation Team | Reviewed. HGVS name and location corrected. ClinVar link added. |
| 5 | 2014-06-04 10:16:07 | The IthaGenes Curation Team | Reviewed. ClinVar link corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07