IthaID: 4022
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 122 TTC>TGC [Phe>Cys] | HGVS Name: | HBB:c.368T>G |
| Hb Name: | Hb Tanah Merah | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CTGGCCCATCACTTTGGCAAAGAAT [T>G] CACCCCACCAGTGCAGGCTGCCTAT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKECTPPVQAAYQKVVAGVANALAHKYH
Comments: The mutation changes Phenylalanine into Cysteine and was found in seven individuals. Six individuals (individuals 1-6) had Hb levels of 11-14.4g/dL and HbA2 levels in the range of 3.3-3.8% via the CE method. One individual (individual 7) with Hb level of 17.3g/dL had a HbA2 level of 3.4% by HPLC method. No Hb variant was found in both methods. Common alpha thalassaemia (deletion and non-deletional) were tested in all seven individuals and only one individual (individual 6) had co-inherited single gene 3.7Kb deletion with HbA2 level of 3.8%. No common alpha thalassaemia was detected in the other six individuals.
External 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: | 71942 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Abdul Hamid, Faidatul Syazlin | 2023-04-02 | First report. |