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
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
Created on 2016-08-26 10:25:49,
Last reviewed on 2023-07-03 10:08:09 (Show full history)
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