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Translation

Translation

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 Life

Translation

Translation

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 Life

Mutations

Mutations

Amyloid Fibrils

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins. Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils.
Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining, normally used to...

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

Protein Modifications in the RER

Protein Modifications in the RER

Modification of secretory and transmembrane proteins entering the rough ER begins in the ER lumen. These modifications aid in protein folding and stabilize the acquired tertiary structure. Protein modifications in the rough ER co-occur at different stages of protein folding.
Broadly, these modifications can be categorized into four main categories — glycosylation, formation of disulfide bonds, assembly of protein subunits, and specific proteolytic cleavages like removal of signal sequences.

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Related Experiment Video

Updated: Jun 16, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern.

José A Mejias-Figueroa¹, Charlotte M Story², Michael B Streiff²

¹University of Puerto Rico, School of Medicine, San Juan, Puerto Rico.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis

|June 15, 2026

Summary

This summary is machine-generated.

This case report details a patient with protein S deficiency presenting with deep vein thrombosis (DVT). Further genetic analysis identified a PROS1 variant, p.Cys475Tyr, supporting its role in thrombosis risk.

Keywords:

case report protein S deficiency thrombophilia venous thromboembolism

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Published on: June 9, 2018

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Area of Science:

Hematology
Genetics
Molecular Biology

Background:

Protein S deficiency is an inherited thrombophilia associated with an increased risk of venous thromboembolism.
Direct oral anticoagulants (DOACs) are increasingly used for anticoagulation in patients with thrombotic disorders.

Purpose of the Study:

To report a case of deep vein thrombosis (DVT) in a patient with protein S deficiency.
To investigate the pathogenicity of a PROS1 variant of uncertain significance identified in the patient.

Main Methods:

Clinical case presentation and review of anticoagulation treatment.
Biochemical testing for protein S deficiency.
Genetic analysis of the PROS1 gene, including variant identification and assessment of its functional impact.

Main Results:

The patient presented with DVT and was diagnosed with type III protein S deficiency.
A PROS1 variant, c.1424G>A (p.Cys475Tyr), was identified.
The p.Cys475Tyr variant affects a cysteine residue crucial for disulfide bond formation in the sex hormone-binding globulin-like domain, impacting protein S function.

Conclusions:

The identified PROS1 variant, p.Cys475Tyr, is likely pathogenic and contributes to the patient's thrombotic risk.
This case highlights the importance of genetic analysis in understanding protein S deficiency and guiding anticoagulation strategies.