相关实验视频

Updated: Jan 15, 2026

Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

3.0K

结构和变异效应预测器在RyR1临床解释中的互补作用

Rolando Hernández Trapero1, Mihaly Badonyi1, Lukas Gerasimavicius1

  • 1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Human mutation
|October 13, 2025
PubMed
概括

这项研究引入了一种新的方法,即空间接近疾病变异 (SPDV),以更好地解释RYR1相关疾病中的遗传变异. SPDV使用蛋白质结构来改善当前工具不足时的诊断.

关键词:
功能收益的功能收益.错误的意义变体的变体氨酸受体是氨酸的受体.结构生物信息学变异效应预测器的变异效应预测器变体解释变体解释

更多相关视频

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons08:04

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

1.4K
Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis10:33

Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis

Published on: June 17, 2019

11.3K

相关概念视频

Variation01:19

Variation

An important characteristic of any set of data is the variation in the data. In some data sets, the data values are concentrated closely near the mean; in other data sets, the data values are more widely spread out from the mean. The most common measure of variation, or spread, is the standard deviation, which is the square root of variance.
When independent and dependent variables are plotted on a scatter plot, the slope of a line is a value that describes the rate of change between the two...
7.7K
Epistasis01:39

Epistasis

In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
50.1K
Variability: Analysis01:11

Variability: Analysis

Measures of variability are statistical metrics that reveal the dispersion pattern within a dataset. They are pivotal in biostatistics, providing insights into the heterogeneity within health and biological data. Variability signifies the degree to which data points diverge from one another, helping researchers understand the potential range of values and associated uncertainty within the data.
The range is a simple measure of variability, indicating the difference between the highest and...
444
Leaky Scanning02:28

Leaky Scanning

During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
5.6K
Receiver Operating Characteristic Plot01:15

Receiver Operating Characteristic Plot

A ROC (Receiver Operating Characteristic) plot is a graphical tool used to assess the performance of a binary classification model by illustrating the trade-off between sensitivity (true positive rate) and specificity (false positive rate). By plotting sensitivity against 1 - specificity across various threshold settings, the ROC curve shows how well the model distinguishes between classes, with a curve closer to the top-left corner indicating a more accurate model. The area under the ROC curve...
471
Epistasis Analysis01:09

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.7K