IthaID: 2209
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 32 ATG>AGG [Met>Arg] | HGVS Name: | HBA2:c.98T>G |
Hb Name: | Hb Rotterdam | Protein Info: | α2 32(B13) Met>Arg |
Context nucleotide sequence:
CCTCACTCTGCTTCTCCCCGCAGGA [T>G] GTTCCTGTCCTTCCCCACCACCAAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERRFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Gran Vía
Comments: The substitution of the neutral apolar hydrophobic and internal Methionine for the positively charged, external and active binder Arginine, is likely to cause molecular instability.
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: | Hyperunstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 33990 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 2 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | African, Surinam |
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
- Giordano PC, Cnossen MH, Joosten AM, Jansen CA, Hakvoort TE, Bakker-Verweij M, Arkesteijn SG, van Delft P, Waye JS, Bouva MJ, Harteveld CL, Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening., Hemoglobin , 34(4), 354-65, 2010 PubMed
- 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 2013-10-02 10:41:38,
Last reviewed on 2019-04-05 13:52:02 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2013-10-02 10:41:38 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2016-08-23 14:31:28 | The IthaGenes Curation Team | Reviewed. Update of mutation comment section. Update of protein name. Structural Hb variant phenotype information added. |
4 | 2016-08-24 15:05:22 | The IthaGenes Curation Team | Reviewed. Protein info updated and mutated protein sequence added. |
5 | 2016-08-26 09:46:34 | The IthaGenes Curation Team | Reviewed. |
6 | 2016-08-26 09:46:59 | The IthaGenes Curation Team | Reviewed. Add synonym. Add reference. |
7 | 2019-04-05 13:50:45 | The IthaGenes Curation Team | Reviewed. Allele and context sequence added. HbVar link added. Location corrected. |
8 | 2019-04-05 13:52:02 | The IthaGenes Curation Team | Reviewed. Strand added. |
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IthaGenes was last updated on 2024-09-28 12:00:32