IthaID: 3027
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | Init CD ATG>ATT [Met>Ile] | HGVS Name: | HBA2:c.3G>T |
Hb Name: | Hb Valdecilla | Protein Info: | N/A |
Context nucleotide sequence:
CAGACTCAGAGAGAACCCACCAT [G>T] GTGCTGTCTCCTGCCGACAAGACCAAC (Strand: +)
Protein sequence:
IVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: This mutation prevents the initiation of translation.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | α⁺ |
Stability: | N/A |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 33778 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 1 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Initiation codon (Translation) |
Ethnic Origin: | Spanish |
Molecular mechanism: | N/A |
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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Publications / Origin
- de la Fuente-Gonzalo F, Nieto JM, Velasco D, Cela E, Pérez G, Fernández-Teijeiro A, Escudero A, Villegas A, González-Fernández FA, Ropero P, HB Puerta del Sol [HBA1:c.148A>C], HB Valdecilla [HBA2:c.3G>T], HB Gran Vía [HBA2:c.98T>G], HB Macarena [HBA2:c.358C>T] and HB El Retiro [HBA2:c.364_366dupGTG]: description of five new hemoglobinopathies., Clin. Chem. Lab. Med. , 54(4), 553-60, 2016 PubMed
Created on 2016-08-26 10:25:49,
Last reviewed on 2023-07-03 10:08:09 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-08-26 10:25:49 | The IthaGenes Curation Team | Created |
2 | 2016-08-26 10:39:15 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-08-26 10:53:25 | The IthaGenes Curation Team | Reviewed. |
4 | 2019-04-05 13:25:26 | The IthaGenes Curation Team | Reviewed. Comment, Allele phenotype, Inheritance, Origin and HbVar link added. |
5 | 2023-07-03 10:08:09 | The IthaGenes Curation Team | Reviewed. Effect corrected |
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IthaGenes was last updated on 2024-10-08 13:09:20