IthaID: 716
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 114 CCC>CGC [Pro>Arg] | HGVS Name: | HBA1:c.344C>G | HBA2:c.344C>G |
| Hb Name: | Hb Chiapas | Protein Info: | α2 or α1 114(GH2) Pro>Arg |
Context nucleotide sequence:
CTGGTGACCCTGGCCGCCCACCTCC [C/G/T] CGCCGAGTTCACCCCTGCGGTGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLRAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34378 or 38189 |
| 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: | Mexican |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968
- Ibarra B, Franco-Gamboa E, Ramírez ML, Cantú JM, Wilson JB, Lam H, Huisman TH, Hb Chiapas alpha 2 114 Pro replaced by Arg beta 2: identification by high pressure liquid chromatography., Hemoglobin , 5(6), 605-8, 1981
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:21:19 (Show full history)
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