1 / 1

Comprehensive Analysis of Genetic Variants Associated with Disease Pathways and Protein Domains

This document provides a detailed overview of multiple genetic variants, including missense mutations (e.g., Q400R, Y114H), in-frame alterations (e.g., 1395del, G165C), truncating mutations (e.g., E466X), and splice site changes that may impact protein functionality. Key domains such as APE1 binding, RPA domains, and PCNA interacting motifs are highlighted, along with their roles in DNA binding and repair processes. This analysis aims to further understand the implications of these variants in disease mechanisms and their potential contributions to abnormal cellular functions.

salaam
Télécharger la présentation

Comprehensive Analysis of Genetic Variants Associated with Disease Pathways and Protein Domains

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. R227W 137ins IW R168H Missense and in Frame Q400R Y114H G382D P391S 1395del GGA Y165C W117R V23F R168C NH2 COOH Codons 1 200 400 100 300 500 535 Splice Site 347-G>A 891+3A>C 1145-2A>G Truncating E466X 119del GT 252del G Y90X E182X Q300X Q324X 1419del C 1103del C 1186ins GG APE1binding domain RPA binding domain HhH motif PCNA binding domain DNA minor groove binding MSH6 binding domain Pseudo HhH motif Adenine binding motif

More Related