Skip to main content

LUP Student Papers

LUND UNIVERSITY LIBRARIES

The Analysis of Human Protein Deletion

Luan, Xinning (2024) BINP51 20231
Degree Projects in Bioinformatics
Abstract
This study aimed to investigate various properties associated with human protein deletions, encompassing deletion length and position, amino acid composition, flanking amino acid composition, functions of the host proteins, the functional role of the corresponding gene, relative positioning with protein domains, protein structure within the deletion region, and conservation, to identify potential patterns. The results indicate that 70% of protein sequences exclusively harbor a single type of deletion. Protein deletions are predominantly concentrated in linker regions, particularly those proximal to the termini. Notably, lysine, glutamine, glutamic acid, and glycine exhibit conservation in the vicinity of inframe deletion cutting points.... (More)
This study aimed to investigate various properties associated with human protein deletions, encompassing deletion length and position, amino acid composition, flanking amino acid composition, functions of the host proteins, the functional role of the corresponding gene, relative positioning with protein domains, protein structure within the deletion region, and conservation, to identify potential patterns. The results indicate that 70% of protein sequences exclusively harbor a single type of deletion. Protein deletions are predominantly concentrated in linker regions, particularly those proximal to the termini. Notably, lysine, glutamine, glutamic acid, and glycine exhibit conservation in the vicinity of inframe deletion cutting points. C-terminal deletions exhibit the highest number of insignificant amino acid compositions compared to N-terminal and inframe deletions. Essential genes show a significant correlation with protein deletions. The I (PI-helix) in the inframe and C-terminal regions shows no statistical significance at the 0.05 level, whereas other protein structures demonstrate correlations with protein deletions. No discernable difference in amino acid conservation is observed among various deletion groups and the background. These findings hold significance for a deeper understanding of human protein deletions. (Less)
Popular Abstract
In various levels of protein structure, amino acids combine through peptide bonds to form amino acid chains, constituting the primary structure of proteins. Our study focuses on protein deletions, the absence of certain amino acids in protein sequences among different protein variants.
Some studies suggest that protein deletions can alter protein function and may lead to diseases such as Duchenne muscular dystrophy. Protein deletions can occur due to genetic variations at the gene level or modifications during the translation process. They can also manifest in isoforms of the same gene resulting from alternative splicing or initiation.
In our study, we examine human protein deletions regardless of their cause. We classify these deletions... (More)
In various levels of protein structure, amino acids combine through peptide bonds to form amino acid chains, constituting the primary structure of proteins. Our study focuses on protein deletions, the absence of certain amino acids in protein sequences among different protein variants.
Some studies suggest that protein deletions can alter protein function and may lead to diseases such as Duchenne muscular dystrophy. Protein deletions can occur due to genetic variations at the gene level or modifications during the translation process. They can also manifest in isoforms of the same gene resulting from alternative splicing or initiation.
In our study, we examine human protein deletions regardless of their cause. We classify these deletions into N-terminal, inframe, and C-terminal based on their positions. Then, we conduct analyses on deletion length and position, amino acid composition, flanking amino acid composition, host protein functions, the functional role of the corresponding gene, relative positioning with protein domains, protein structure within the deletion region, and conservation. Through these analyses, we aim to identify patterns or regularities in protein deletions.
Our results reveal that 70% of protein sequences exclusively harbor a single type of deletion. Protein deletions are predominantly concentrated in linker regions, particularly those proximal to the termini. Notably, lysine, glutamine, glutamic acid, and glycine exhibit conservation in the vicinity of inframe deletion cutting points. C-terminal deletions exhibit the highest number of insignificant amino acid compositions compared to N-terminal and inframe deletions. Essential genes show a significant correlation with protein deletions. The PI-helix in the inframe and C-terminal regions shows no statistical significance at the 0.05 level, whereas other protein structures demonstrate correlations with protein deletions. No discernible difference in amino acid conservation is observed among various deletion groups and the background.
Our study provides valuable insights that can serve as a reference for the identification and even prediction of the properties of human protein deletions. (Less)
Please use this url to cite or link to this publication:
author
Luan, Xinning
supervisor
organization
course
BINP51 20231
year
type
H2 - Master's Degree (Two Years)
subject
language
English
id
9149224
date added to LUP
2024-02-28 16:01:21
date last changed
2024-02-28 16:01:21
@misc{9149224,
  abstract     = {{This study aimed to investigate various properties associated with human protein deletions, encompassing deletion length and position, amino acid composition, flanking amino acid composition, functions of the host proteins, the functional role of the corresponding gene, relative positioning with protein domains, protein structure within the deletion region, and conservation, to identify potential patterns. The results indicate that 70% of protein sequences exclusively harbor a single type of deletion. Protein deletions are predominantly concentrated in linker regions, particularly those proximal to the termini. Notably, lysine, glutamine, glutamic acid, and glycine exhibit conservation in the vicinity of inframe deletion cutting points. C-terminal deletions exhibit the highest number of insignificant amino acid compositions compared to N-terminal and inframe deletions. Essential genes show a significant correlation with protein deletions. The I (PI-helix) in the inframe and C-terminal regions shows no statistical significance at the 0.05 level, whereas other protein structures demonstrate correlations with protein deletions. No discernable difference in amino acid conservation is observed among various deletion groups and the background. These findings hold significance for a deeper understanding of human protein deletions.}},
  author       = {{Luan, Xinning}},
  language     = {{eng}},
  note         = {{Student Paper}},
  title        = {{The Analysis of Human Protein Deletion}},
  year         = {{2024}},
}