IthaID: 683
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 95 CCG>CTG [Pro>Leu] | HGVS Name: | HBA2:c.287C>T |
| Hb Name: | Hb G-Georgia | Protein Info: | α2 95(G2) Pro>Leu |
Context nucleotide sequence:
CACGCGCACAAGCTTCGGGTGGACC [C/T] GGTCAACTTCAAGGTGAGCGGCGGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDLVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34179 |
| 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, Portuguese |
| 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
- Huisman TH, Adams HR, Wilson JB, Efremov GD, Reynolds CA, Wrightstone RN, Hemoglobin G Georgia or alpha 2-95 Leu (G-2) beta-2., Biochim. Biophys. Acta , 200(3), 578-80, 1970 PubMed
- Smith LL, Plese CF, Barton BP, Charache S, Wilson JB, Huisman TH, Subunit dissociation of the abnormal hemoglobins G Georgia ( 2 95Leu (G2) 2 ) and Rampa ( 2 95Ser (G2) 2 )., J. Biol. Chem. , 247(5), 1433-9, 1972 PubMed
- Wrightstone RN, Hubbard M, Huisman TH, Hemoglobin S-Ga Georgia disease: a case report., Acta Haematol. , 51(5), 315-20, 1974 PubMed
- North ML, Garel MC, Thillet J, Oberling F, Lang JM, Mayer S, Rosa J, [A new case of hemoglobin G Georgia (author's transl)]., Nouv Rev Fr Hematol , 15(4), 460-7, 1975 PubMed
- Molchanova TP, Huisman TH, The importance of the 3' untranslated region for the expression of the alpha-globin genes., Hemoglobin , 20(1), 41-54, 1996 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 14:46:32 (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 14:46:32 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, references and ClinVar link. |
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IthaGenes was last updated on 2024-11-20 13:24:07