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
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
- Jones RT, Brimhall B, Lisker R, Chemical characterization of hemoglobin-Mexico and hemoglobin-Chiapas., Biochim. Biophys. Acta , 154(3), 488-95, 1968 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:21:19 (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 | 2014-04-14 17:21:19 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07