Identification of single nucleotide polymorphisms of the human metabotropic glutamate receptor 1 gene and pharmacological characterization of a P993S variant

Abstract

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The metabotropic glutamate receptor 1, GRM1: evaluation as a candidate gene for inherited forms of cerebellar ataxia

“…Some are frequent, others are less common, already described by HapMap consortium. Of particular interest are the non synonymous variant p.Pro1069Leu, identified in only one control individual, and the p.Pro1072Ala detected in one patient and in a control individual with genetic mosaicism in this work and also detected in 3% of allegedly normal Afro-American individuals [6]. Both variants are conserved among mGlu receptor families and are localized in the same intracellular glutamine-proline rich low-complexity domain close to the region where is placed the p.Ser993Pro.…”

“…Despite the low level of sequence variations exhibited in the mouse, GRM1 presents in the general population different synonymous and missense variants with different degrees of frequency and specific geographic distribution. The highly polymorphic p.Ser993Pro, localized in an intracellular glutamine-proline rich low-complexity domain, is known to affect neither the ligand-receptor interaction nor the calcium mobilization from intracellular storages [6] whereas the functional implications of the other changes remain to be addressed.…”

Computational exploration of polymorphisms in 5-Hydoxytryptamine 5-HT1A and 5-HT2A receptors associated with psychiatric disease

“…The nsSNPs have been linked to a wide variety of diseases affecting protein function, altering DNA and transcription factor binding sites, reducing protein solubility and destabilizing protein structures (Chasman and Adams, 2001). They can affect the protein folding and produce an unstable conformation which ultimately determines the susceptibility of a disease or variation in response to a drug (Downey et al, 2008;Ennis et al, 2001). Similarly, sSNPs in coding regions and SNPs at UTRs and promoter regions may still have effect on gene expression and transcription-factor binding (Prokunina and Alarcón-Riquelme, 2004;Sonenberg, 1994).…”

The Identification of Functional Non-Synonymous SNP in Human ATPBinding Cassette (ABC), Subfamily Member 7 Gene: Application of Bioinformatics Tools in Biomedicine

“…The large number of SNPs accumulated in the database at the National Center for Biological Technology (NCBI) provides a great opportunity for mapping loci responsible for phenotypic variation e.g. severity of or susceptibility to complex diseases and variation in pharmacological responses [2,3]. Functional SNPs reported to be associated with human diseases can be categorized into 3 types: 1) regulatory SNP which is located in the regulatory region of genes e.g.…”