IthaID: 3767
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 30 GAG>AAG [Glu>Lys] | HGVS Name: | HBA1:c.91G>A |
| Hb Name: | Hb O-Padova | Protein Info: | α1 30(B11) Glu>Lys |
Context nucleotide sequence:
TGGCGAGTATGGTGCGGAGGCCCTG [G/A] AGAGGTGAGGCTCCCTCCCCTGCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALKRMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported in one case from Sabah in compound heterozygosity with -α4.2 [IthaID:301]. Presented with normal levels of Hb 11.4 g/dL and RBC 5.36 10^12/L and reduced levels of MCV 70.1 fL and MCH 21.3 pg. Capillary electrophoresis shown reduced level of HbA2 1.7% with an abnormal peak of 29.9 % (at zone E) and a small abnormal peak at Z1 (0.8%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Unclear |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37670 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
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To the best of our knowledge, this is unpublished data.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 | Mohd Yasin, Norafiza | 2020-11-24 | First report. |