PolyPhen-2 Tutorial Series: Submitting a Query using a Protein Identifier

This tutorial demonstrates how to submit a query about a specific variant to Polymorphism Phenotyping v2 (PolyPhen-2) using a protein identifier from the Universal Protein resource (UniProt). Queries submitted with a protein identifier must also include information about the variant position within the protein sequence and about the reference and variant amino acids. Want to practice applying this information? Check out the activities in our Sequence Comparison & Identity module on our website: https://www.jax.org/education-and-learning/high-school-students-and-undergraduates/teaching-the-genome-generation/stem-learning-resources?eduTopic=dff8d5d3-7b45-4af1-b0df-504053d7eef6 Or on LabXchange: https://www.labxchange.org/library/pathway/lx-pathway:430d9cc3-22f1-426c-885f-82119f469e64 PolyPhen-2: http://genetics.bwh.harvard.edu/pph2/ PolyPhen-2 Tutorial Series Playlist: https://www.youtube.com/playlist?list=PLWNp6Z5dXDZ61kvBXYlr60B6deiAVy-tj UniProt Tutorial Series Playlist: https://www.youtube.com/playlist?list=PLWNp6Z5dXDZ6VsQN0dU3RgNbNEhUuPp-t Genomic Education at The Jackson Laboratory: https://www.jax.org/education-and-learning Genetics Learning Resources from The Jackson Laboratory: https://www.jax.org/stem-resources Key moments: 0:00 Introduction 0:20 Entering a protein identifier 2:12 Entering variant details 3:48 Entering a query description 4:14 Submitting the query 4:29 Conclusion Keywords: PolyPhen-2, UniProt, variant effect prediction