IthaID: 3567
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 46 GGG>CGG [Gly>Arg] | HGVS Name: | HBB:c.139G>C |
| Hb Name: | Hb Cenxi | Protein Info: | β 46(CD5) Gly>Arg |
Context nucleotide sequence:
GACCCAGAGGTTCTTTGAGTCCTTT [G>C] GGGATCTGTCCACTCCTGATGCTGT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFRDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Reported as a heterozygote in one female individual during routine pregnancy thalassaemia screening (Hb 13.3 g/dL, MCV 81.9 fL, MCH 27.7 pg). The Hb variant was detected by CE but co-elutes with HbA2 by HPLC. Negative isopropanol stability test result.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-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: | 70863 |
| Size: | 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: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Li YQ, Li YW, Liang L, Meng MH, Zhang XQ, First Detection of Hb Cenxi [β46(CD5)Gly→Arg (GG>GG), : c.139G>C] by Capillary Electrophoresis., Hemoglobin, 2020
Created on 2020-02-03 09:30:49,
Last reviewed on 2020-02-03 09:31:31 (Show full history)
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