IthaID: 3001
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
---|---|---|---|
Common Name: | CD 111 GTC>GGC [Val>Gly] | HGVS Name: | HBB:c.335T>G |
Hb Name: | Hb Belluno | Protein Info: | β 111(G13) Val>Gly |
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLGCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Found as a heterozygote with normal clinical presentation. The variant showed mild instability with both heat and isopropanol tests.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | β-chain variant |
Allele Phenotype: | Silent Hb |
Stability: | Unstable |
Oxygen Affinity: | N/A |
Associated Phenotypes: | N/A |
Location
Chromosome: | 11 |
---|---|
Locus: | NG_000007.3 |
Locus Location: | 71909 |
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: | Altered α1β1 interface |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
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.
Publications / Origin
- Pianezze G, Toniolo M, Taddei Masieri M, Dolcini B, Ravani A, Hb Belluno [β111(G13)Val→Gly;β133(H11)Val→Val (HBB: c.335T > G;402G > C)]: Incidental Detection of a New Clinically Silent β Chain Variant During Hb A1c Determination by High Performance Liquid Chromatography., Hemoglobin , 40(3), 143-9, 2016
Created on 2016-08-24 09:59:50,
Last reviewed on 2016-08-24 13:30:27 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2016-08-24 09:59:50 | The IthaGenes Curation Team | Created |
2 | 2016-08-24 13:30:27 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06