IthaID: 3754
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | Init CD ATG>AAG [Met>Lys] | HGVS Name: | HBA2:c.2T>A |
| Hb Name: | N/A | Protein Info: | α2 Initiation codon Met>Lys |
Context nucleotide sequence:
TCCCCACAGACTCAGAGAGAACCCACCA [T/A] GGTGCTGTCTCCTGCCGACAAGACCAAC (Strand: +)
Protein sequence:
KVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Found in compound heterozygosity with the -α3.7 [IthaID: 300], in a female patient presented with microcytic hypochromic anemia and iron deficiency anemia. Patient father also carried the novel mutation in combination with the -α3.7 and both had typical features of thalassemia and abnormal hematological indices compared with those with αα/-α3.7 genotype.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33777 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Initiation codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Chen Y, Wang J, Wang C, Chen S, Feng N, Liu H, Tang X, Zhang S, [A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene]., Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 38(1), 12-14, 2021