IthaID: 2379
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro] | HGVS Name: | HBB:c.[20A>T ;317T>C] |
| Hb Name: | Hb S-San Martin | Protein Info: | β 6(A3) Glu>Val AND β 105(G7) Leu>Pro |
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Sickling |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71891 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1, Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Argentine |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Feliu-Torres A, Eberle SE, Bragós IM, Sciuccati G, Ojeda MJ, Calvo KL, Voss ME, Pratti AF, Milani AC, Bonduel M, Díaz L, Noguera NI, Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] in an Argentinean family., Hemoglobin , 34(5), 500-4, 2010
Created on 2014-05-26 10:27:25,
Last reviewed on (Show full history)
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