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:

Protein sequence:

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


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

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Publications / Origin

  1. 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
  2. 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
Created on 2016-08-09 11:45:25, Last reviewed on 2019-12-23 12:41:29 (Show full history)

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