IthaID: 1460
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 2 CAT>CAG | HGVS Name: | HBG1:c.9T>G |
| Hb Name: | Hb F-Macedonia-I | Protein Info: | Aγ 2(NA2) His>Gln |
Context nucleotide sequence:
CTCCTAGTCCAGACGCCATGGGTCA [G/T] TTCACAGAGGAGGACAAGGCTACTA (Strand: -)
Protein sequence:
MGQFTEEDKATITSLWGKVNVEDAGGETLGRLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDATKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | γ-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 47820 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Macedonian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Plaseska D, Cepreganova-Krstik B, Momirovska A, Efremov GD, Hb F-Macedonia-I or alpha 2A gamma (2)2(NA2)His- > Gln., Hemoglobin, 18(3), 241-5, 1994
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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