IthaID: 3724
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 136 CTG>CAG [Leu>Gln] | HGVS Name: | HBA1:c.410T>A |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
TTCCTGGCTTCTGTGAGCACCGTGC [T/A] GACCTCCAAATACCGTTAAGCTGGA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVQTSKYR
Also known as:
Comments: Found in two unrelated heterozygotes individuals. Both were asymptomatic with Hb level range 11.6-15.6 g/dL, MCV 65-75.1 fL, MCH 20.8-25.5 pg, RBC 5.59-6.11 10^12/L and HbA2 of 1.8-2.5 %, with small peaks of 0.3 % and 1.8 % at zone c and zone 11 respectively. Based on online protein prediction publication software (Project HOPE), it has stated that the wild type residue is more hydrophobic than the mutation residue.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38255 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
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
Publications / Origin
To the best of our knowledge, this is unpublished data. Please use with caution!
Microattributions
| A/A | Contributor(s) | Date | Comments |
|---|---|---|---|
| 1 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |