IthaID: 1193
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 115 GCC>GTC [Ala>Val] | HGVS Name: | HBB:c.347C>T |
| Hb Name: | Hb Roma | Protein Info: | β 115(G17) Ala>Val |
Context nucleotide sequence:
GGCAACGTGCTGGTCTGTGTGCTGG [C/T] CCATCACTTTGGCAAAGAATTCACC (Strand: -)
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: | Unstable |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71921 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 445 | Hb Roma | β | D-10 | Dual Kit Program | 28.5 | 4.18 | Elutes with HbA. | [PDF] | |
| 446 | Hb Roma | β | VARIANT | β-thal Short Program | 31.3 | 4.52 | Elutes with HbA. | [PDF] | |
| 447 | Hb Roma | β | VARIANT II | β-thal Short Program | 3.33 | 4.6 | Elutes with HbA. | [PDF] | |
| 448 | Hb Roma | β | VARIANT II | Dual Kit Program | 31.3 | 3.623 | Elutes with HbA. | [PDF] |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Manconi B, De Rosa MC, Cappabianca MP, Olianas A, Carelli Alinovi C, Mastropietro F, Ponzini D, Amato A, Pellegrini M, A new beta-chain haemoglobin variant with increased oxygen affinity: Hb Roma [beta115(g17)Ala-->Val]., Biochimica et biophysica acta, 1800(3), 327-35, 2010 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2019-11-13 17:26:07 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-09 09:17:40 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2019-11-13 17:26:07 | The IthaGenes Curation Team | Reviewed. HGVS name and Location corrected. |
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IthaGenes was last updated on 2024-04-18 10:10:45