Related Experiment Video

Updated: Sep 5, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K

Ion-ing out the genetic variants of Kir2.1

Braden S Fallon1, Justin G English1

  • 1Department of Biochemistry, University of Utah, Salt Lake City, United States.

Elife
|July 11, 2022
PubMed

Abstract:

Deep mutational scanning provides new insights into how mutations alter the expression and activity of the potassium ion channel Kir2.1, which is associated with many diseases.

Keywords:
deep mutational scanningfoldinggatinggeneticsgenomicshigh-throughpution channelmolecular biophysicsmousestructural biologyvariant effect prediction

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.9K
qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

8.7K

Related Experiment Videos

Last Updated: Sep 5, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.1K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.9K
qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
07:58

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes

Published on: March 6, 2019

8.7K

Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

15.7K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.7K

Articles linked to this work by shared authors, journal, and citation graph.

Protease-Activated Receptor 1 as an Endogenous Model of Peptidergic Gαq-Gα12-Biased G Protein Signaling.

bioRxiv : the preprint server for biology·2026

ConSeqUMI, an error-free nanopore sequencing pipeline to identify and extract individual nucleic acid molecules from heterogeneous samples.

Nucleic acids research·2025

High-Throughput Characterization of Tetracycline Repressor Function on Tetracycline Operator 2 Variants.

ACS synthetic biology·2025

ConSeqUMI, an error-free nanopore sequencing pipeline to identify and extract individual nucleic acid molecules from heterogeneous samples.

bioRxiv : the preprint server for biology·2025

Biased Signaling in G Protein-Coupled Receptors: Understanding the Biological Relevance and Tools for Probing Functionally Selective Ligands.

Biochemistry·2025

A massively parallel reporter assay library to screen short synthetic promoters in mammalian cells.

Nature communications·2024

In vitro sexual dimorphism establishment in schistosomes.

eLife·2026

The C3-C3aR axis modulates trained immunity in alveolar macrophages.

eLife·2026

The genetic control of rapid genome content divergence in Arabidopsis thaliana.

eLife·2026

Nim1-related kinases regulate septin organization and cytokinesis by modulating Hof1 at the cell division site.

eLife·2026

Serum, cell-free, HPV-human DNA junction detection and HPV typing for predicting and monitoring cervical cancer recurrence.

eLife·2026

Primordial cardiomyocytes orchestrate myocardial morphogenesis and vascularization but are dispensable for regeneration.

eLife·2026

Biomarkers for mood disorders: A scoping review of research from India.

Indian journal of psychiatry·2026

Single-cell mapping of homocysteine-induced perturbations in avian embryogenesis using LMO and BD rhapsody transcriptomics.

iScience·2026

LncRNA DNAJC3-AS1 promotes gastric cancer malignancy through miR-576-5p-mediated upregulation of LYPLA1.

American journal of cancer research·2026

FLInt in C. briggsae and C. tropicalis : Strains and resources for fast and locus-targeted integration of multi-copy transgenes.

microPublication biology·2026

Optimized tissue sample preparation for cryo-electron tomography using serial lift-out.

Biophysics reports·2026

Emerging genes implicated in human congenital heart disease: a 2023-2025 scoping review.

Translational pediatrics·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us