IthaID: 3884
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 81 TCC>TTC [Ser>Phe] | HGVS Name: | HBA2:c.245C>T |
| Hb Name: | Hb Zhaotong | Protein Info: | α2 81(F2) Ser>Phe |
Context nucleotide sequence:
GGACGACATGCCCAACGCGCTGT [C/T] CGCCCTGAGCGACCTGCACGCGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALFALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in a 38-year-old female with unremarkable blood cell count.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | α⁺ |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34137 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Zhang J, Xie M, Peng Z, Zhou X, Zhao T, Jin C, Yan Y, Zeng X, Li D, Zhang Y, Su J, Feng N, He J, Yao X, Lv T, Zhu B, Five novel globin gene mutations identified in five Chinese families by next-generation sequencing., Mol Genet Genomic Med, 9(12), e1835, 2021
Created on 2022-01-04 18:03:33,
Last reviewed on 2022-01-05 11:49:42 (Show full history)
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