Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

In Silico Analysis of FMR1 Gene Missense SNPs.

Cell biochemistry and biophysics - 1 Jun 2016

Tekcan Akin

Abstract excerpt

The FMR1 gene, a member of the fragile X-related gene family, is responsible for fragile X syndrome (FXS). Missense single-nucleotide polymorphisms (SNPs) are responsible for many complex diseases. The effect of FMR1 gene missense SNPs is unknown. The aim of this study, using in silico techniques, was to analyze all known missense mutations that can affect the functionality of the FMR1 gene, leading to mental...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computational Biology
Share to Computer Simulation
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Intellectual Disability

Share to Mutation, Missense

Share to Protein Conformation

Share to Protein Stability

Source

Identifiers

PMID: 26880065
DOI: 10.1007/s12013-016-0722-0

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

In Silico Analysis of FMR1 Gene Missense SNPs.PMID 26880065Read ↗

Fragile X syndrome due to a missense mutation.Semantic proximity Read ↗

Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.Semantic proximity Read ↗

Beyond Repeats: Intragenic Variants in FMR1 and Their Contribution to Fragile X Syndrome Pathogenesis.Semantic proximity Read ↗

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.Semantic proximity Read ↗

A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.Semantic proximity Read ↗

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.Semantic proximity Read ↗

Identification of microRNAs Associated With Human Fragile X Syndrome Using Next Generation SequencingSemantic proximity Read ↗

Loss of the KH1 domain of FMR1 in humans due to a synonymous variant causes global developmental retardation.Semantic proximity Read ↗

Rare FMR1 gene mutations causing fragile X syndrome: A review.Semantic proximity Read ↗

Non-CGG trinucleotide repeat expansions as pathogenic genetic mutations in Fragile X SyndromeSemantic proximity Read ↗

Mutation analysis of pathogenic non-synonymous single nucleotide polymorphisms (nsSNPs) in WFS1 gene through computational approaches.Semantic proximity Read ↗

Further identification of a 140bp sequence from amid intron 9 of human FMR1 gene as a new exonSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.