IthaID: 820
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 6 GAG>GTG [Glu>Val]; CD 37 TGG>GGG [Trp>Gly] | HGVS Name: | HBB:c.[20A>T;112T>G] |
| Hb Name: | Hb C-Ndjamena; Hb S-Northwick | Protein Info: | β 6(A3) Glu>Val AND β 37(C3) Trp>Gly |
Context nucleotide sequence:
GACACCATGGTGCATCTGACTCCTG [A/C/G/T] GGAGAAGTCTGCCGTTACTGCCCTG (Strand: -)
Protein sequence:
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Hb C-Djamena associates on the same gene the mutations of HbS and Hb Howick
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | Sickling |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70614 or 70836 |
| Size: | 1 bp or 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chadian, African |
| 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
To the best of our knowledge, this is unpublished data. Please use with caution!
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-06-11 17:05:55 (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 | 2014-04-15 16:37:53 | The IthaGenes Curation Team | Reviewed. Added effect on gene/protein function. |
| 4 | 2014-04-15 19:18:53 | The IthaGenes Curation Team | Reviewed. Corrected strand. |
| 5 | 2019-06-11 17:01:11 | The IthaGenes Curation Team | Reviewed. HbVar link, Synonym Protein name and Ethnic origin added. |
| 6 | 2019-06-11 17:05:55 | The IthaGenes Curation Team | Reviewed. Location added. |
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IthaGenes was last updated on 2024-11-20 13:24:07