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Related Concept Videos

Mutations01:39

Mutations

92.6K
Overview
92.6K
Mutations01:35

Mutations

42.2K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
42.2K
Translation01:31

Translation

17.1K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.1K
Translation01:31

Translation

153.6K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
153.6K
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

534
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
534
Mutations in Microorganisms01:18

Mutations in Microorganisms

314
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
314

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Related Experiment Video

Updated: Dec 3, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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A novel mutation in the COL12A1 gene.

Daniela Araújo1, Henedina Antunes2

  • 1Paediatric Gastroenterology Hepatology and Nutrition Unit, Hospital de Braga. Braga, Portugal.

Gene
|November 1, 2020
PubMed
Summary

Mutations in collagen XII (COL12A1) can cause connective tissue and muscle issues, mimicking collagen VI disorders. This case highlights COL12A1 mutations in a patient with joint hypermobility and muscle weakness.

Area of Science:

  • Genetics
  • Molecular Biology
  • Connective Tissue Disorders

Background:

  • Mutations in collagen XII (COL12A1) are increasingly recognized.
Keywords:
Collagen XII mutationCongenital pes equinovarusConnective tissueJoints’ hyperlaxity

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  • These mutations can lead to phenotypes overlapping with collagen VI-related myopathies.
  • Connective tissue abnormalities and muscle weakness are key features.