IthaID: 778
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 141 CGT>CAT [Arg>Ser] | HGVS Name: | HBA1:c.424C>A | HBA2:c.424C>A |
| Hb Name: | Hb J-Cubujuqui | Protein Info: | α2 or α1 141(HC3) Arg>Ser |
Context nucleotide sequence:
GAGCACCGTGCTGACCTCCAAATAC [A/C/G/T] GTTAAGCTGGAGCCTCGGTAGCCGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYS
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34458 or 38269 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | America Indian, Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Sáenz GF, Elizondo J, Alvarado MA, Atmetlla F, Arroyo G, Martínez G, Lima F, Colombo B, Chemical characterization of a new haemoglobin variant haemoglobin J Cubujuqui (alpha2141(HC3)Arg replaced by Ser beta2)., Biochim. Biophys. Acta , 494(1), 48-50, 1977 PubMed
- Moo-Penn WF, Therrell BL, Jue DL, Johnson MH, Hemoglobin Cubujuqui (alpha 141 Arg-Ser): functional consequences of the alteration of the C-terminus of the alpha chain of hemoglobin., Hemoglobin , 5(7), 715-24, 1981 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 13:01:18 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 13:01:18 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, reference and ClinVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07