IthaID: 3562
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | -198 A>G | HGVS Name: | HBB:c.-248A>G |
| Hb Name: | N/A | Protein Info: | N/A |
Context nucleotide sequence:
GGTATGGGGCCAAGAGAT [A>G] TATCTTAGAGGGAGGGCTG (Strand: -)
Also known as:
Comments: Mutation is found upstream to the Cap site of the β gene. Co-inherited with a frameshift mutation at codon 2 [HBB:c.9delT] in one individual (MCV: 51.9 fL, MCH: 15.5 pg, Hb: 10 g/dL, HbA2: 5.7%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia |
| Allele Phenotype: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70347 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Promoter |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Promoter (Transcription) |
| Ethnic Origin: | Azerbaijani, Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Bayramov B, Aliyeva G, Asadov C, Mammadova T, Karimova N, Eynullazadeh K, Gafarova S, Akbarov S, Farhadova S, Safarzadeh Z, Abbasov M, A Novel Frameshift Mutation at Codon 2 (-T) (: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan., Hemoglobin, 43(0), 280-282, 2019
- Luo S, Chen X, Zeng D, Tang N, Yuan D, Zhong Q, Mao A, Xu R, Yan T, The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation., J Hum Genet, 67(4), 183-195, 2022
Created on 2020-01-31 09:06:46,
Last reviewed on 2022-09-30 11:13:47 (Show full history)
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