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.

External Links

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.