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
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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-15 13:01:18 (Show full history)
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