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
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
- 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
- Wrightstone RN, Hubbard M, Huisman TH, Hemoglobin S-Ga Georgia disease: a case report., Acta Haematol. , 51(5), 315-20, 1974
- 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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 14:46:32 (Show full history)
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