IthaID: 419
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 142 (TAA>AAA) >172aa | HGVS Name: | HBA2:c.427T>A |
| Hb Name: | Hb Icaria | Protein Info: | α2 142, Stop>Lys; modified C-terminal sequence: (142)Lys-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH |
Context nucleotide sequence:
CACCGTGCTGACCTCCAAATACCGT [A/C/G/T] AAGCTGGAGCCTCGGTAGCCGTTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYRK
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34461 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Mediterranean |
| Molecular mechanism: | Elongated globin |
| 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
- Clegg JB, Weatherall DJ, Contopolou-Griva I, Caroutsos K, Poungouras P, Tsevrenis H, Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia., Nature, 251(5472), 245-7, 1974 PubMed
- Efremov GD, Josifovska O, Nikolov N, Codrington JF, Oner C, Gonzalez-Redondo JM, Huisman TH, Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA., Br. J. Haematol. , 75(2), 250-3, 1990 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2015-07-02 17:48:28 (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 | 2015-07-02 17:48:28 | The IthaGenes Curation Team | Reviewed. Allele phenotype corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07