IthaID: 2983
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 27 GAG>GAT [Glu>Asp] | HGVS Name: | HBA1:c.84G>T |
| Hb Name: | Hb Hekinan II | Protein Info: | α1 27(B8) Glu>Asp |
Context nucleotide sequence:
CGCACGCTGGCGAGTATGGTGCGGA [G>T] GCCCTGGAGAGGTGAGGCTCCCTCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGADALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Reported in two cases with normal hematology. Runs with Hb A (IEF position).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37663 |
| 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: | Indian, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yao XY, Yu J, Chen SP, Xiao JW, Zheng QC, Liu HY, Zhang L, Xian Y, Zou L, Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China., Gene , 532(1), 120-4, 2013
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2016-08-23 16:31:49,
Last reviewed on 2023-01-26 09:51:54 (Show full history)
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