IthaID: 899
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 27 GCC>GGC [Ala>Gly] | HGVS Name: | HBB:c.83C>G |
| Hb Name: | Hb Siirt | Protein Info: | β 27(B9) Ala>Gly |
Context nucleotide sequence:
AACGTGGATGAAGTTGGTGGTGAGG [C>G] CCTGGGCAGGTTGGTATCAAGGTTA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEGLGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70677 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Kurdish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 49 | Hb Siirt | β | D-10 | Dual Kit Program | 80.5 | 1.69 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | |
| 50 | Hb Siirt | β | VARIANT | β-thal Short Program | 82.3 | 2.5 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | |
| 51 | Hb Siirt | β | VARIANT II | Dual Kit Program | 80.3 | 1.76 | Heterozygote clinically normal, the mild thalassemic syndrome observed may be in relation with the associated alpha gene abnormality (triple alpha). Hb Siirt elutes together with HbA. | [PDF] | |
| 481 | Hb Siirt | β | VARIANT II | β-thal Short Program | 82.9 | 2.54 | Elutes together with HbA. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Bianco I, Cappabianca MP, Lerone M, Morlupi L, Rinaldi S, Hb Siirt [beta 27(B9)Ala-->Gly]: a new, electrophoretically silent, hemoglobin variant., Hemoglobin, 21(6), 495-7, 1997
- Cappabianca MP, Colosimo A, Sabatucci A, Dainese E, Di Biagio P, Piscitelli R, Sarra O, Zei D, Amato A, A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant., Hemoglobin , 41(1), 53-55, 2017
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-03-07 10:58:34 (Show full history)
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