IthaID: 3321
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 29 GGA>GAA [Gly>Glu] | HGVS Name: | HBG1:c.89G>A |
| Hb Name: | Hb F-Chori-II | Protein Info: | Aγ 29(B11) Gly>Glu |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Protein sequence:
MGHFTEEDKATITSLWGKVNVEDAGGETLERLLVVYPWTQRFFDSFGNLSSASAIMGNPKVKAHGKKVLTSLGDAIKHLDDLKGTFAQLSELHCDKLHVDPENFKLLGNVLVTVLAIHFGKEFTPEVQASWQKMVTAVASALSSRYH
Comments: This new variant was detected in a blood cord sample. Analogous beta and delta chains variants are Hb Lufkin and Hb A2-Hong Kong which result in a mildly unstable protein. Hb F-Chori-II may lead to similar disruption of its tertiary structure.
External Links
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: | 47900 |
| Size: | 1 bp |
| Located at: | Aγ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2018-02-15 18:36:48,
Last reviewed on (Show full history)
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