IthaID: 3718
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 95 CCG>CTG [Pro>Leu] | HGVS Name: | HBA1:c.287C>T |
| Hb Name: | Hb Georgia | Protein Info: | N/A |
Context nucleotide sequence:
TGCACGCGCACAAGCTTCGGGTGGACC [C/T] GGTCAACTTCAAGGTGAGCGGCGGGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDLVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in three heterozygous clinically asymptomatic Malay cases presented with Hb range 11.7-14.8 g/dL, MCV 69.1-80.8 fL and MCH 24.5-26.8 pg. CE shows normal level of HbA2 and an abnormal peak (9.3-18%) at zone 7. HPLC shows no abnormal peak with normal Hb F level. The mutation also reported in compound heterozygosity with SEA deletion [IthaID: 309]. The patient presented with reduced Hb 8.0 g/dL, MCV 62.1 fL and MCH 19.3 pg. CE shows abnormal Hb 30.9 % at zone 7 and HbH 5 %. Normal level of HbF detected with HPLC.
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: | 37983 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
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To the best of our knowledge, this is unpublished data.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. |