IthaID: 2941
Names and Sequences
| Functionality: | Disease modifying mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | rs1695 | HGVS Name: | NG_012075.1:g.6624A>G |
Context nucleotide sequence:
CGTGGAGGACCTCCGCTGCAAATAC [A/G] TCTCCCTCATCTACACCAACTATGT (Strand: +)
Protein sequence:
MPPYTVVYFPVRGRCAALRMLLADQGQSWKEEVVTVETWQEGSLKASCLYGQLPKFQDGDLTLYQSNTILRHLGRTLGLYGKDQQEAALVDMVNDGVEDLRCKYVSLIYTNYEAGKDDYVKALPGQLKPFETLLSQNQGGKTFIVGDQISFADYNLLDLLLIHEVLAPGCLDAFPLLSAYVGRLSARPKLKAFLASPEYVNLPINGNGKQ
Also known as: GSTP1 Ile105Val
Comments: SNP associated with decreased bone mineral density in individuals with β-thalassaemia major. Specifically, the Ile105Val variant, located within the active site of the detoxifying enzyme glutathione transferase GSTP1, leads to reduced enzyme activity, thus contributing to predisposition to ROS-associated diseases like osteoporosis. The GSTP1 Ile105Val heterozygote showed a positive association with HbA2 levels and red blood cell count, as well as negative associations with HbF, MCH, and reticulocyte count in a sickle cell disease cohort from Jamaica.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
Phenotype
| Allele Phenotype (Cis): | N/A |
|---|---|
| Allele Phenotype (Trans): | N/A |
| Associated Phenotypes: |
Hb F levels [HP:0011904] [OMIM:141749] Osteoporosis [HP:0000939] [OMIM:166710] Increased Hb A2 levels [HP:0045048] Abnormal red blood cell count [HP:0020058] Reticulocytopenia [HP:0001896] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_012075.1 |
| Locus Location: | 6624 |
| Size: | 1 bp |
| Located at: | GSTP1 |
| Specific Location: | Exon 5 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Egyptian, Jamaican |
| Molecular mechanism: | N/A |
| Inheritance: | Quantitative trait |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Publications / Origin
- Ragab SM, Badr EA, Ibrahim AS, Evaluation of Glutathione-S-Transferase P1 Polymorphism and its Relation to Bone Mineral Density in Egyptian Children and Adolescents with Beta-Thalassemia Major., Mediterr J Hematol Infect Dis , 8(1), e2016004, 2016 PubMed
- Howell S, Marshall K, Reid M, McFarlane-Anderson N, McKenzie C, A cross-sectional clinic-based study exploring whether variants within the glutathione S-transferase, haptoglobin and uridine 5'-diphospho-glucuronosyltransferase 1A1 genes are associated with interindividual phenotypic variation in sickle cell anaemia in Jamaica., Eur. J. Haematol. , 2017 PubMed
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2016-08-09 11:45:25 | The IthaGenes Curation Team | Created |
| 2 | 2016-08-09 11:46:28 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2016-08-09 12:01:23 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2016-08-09 12:02:34 | The IthaGenes Curation Team | Reviewed. |
| 5 | 2018-01-04 19:43:11 | The IthaGenes Curation Team | Reviewed. Mutation Comment and Clinical Phenotype added. Reference added. |
| 6 | 2019-07-02 14:34:55 | The IthaGenes Curation Team | Reviewed. Clinical phenotype added. |
| 7 | 2019-07-03 15:58:48 | The IthaGenes Curation Team | Reviewed. Phenotype added. |
| 8 | 2019-12-23 12:41:29 | The IthaGenes Curation Team | Reviewed. Phenotype added. |