Insight into RIPK4 mutations I121N and T184I involved in popliteal pterygium syndrome lethal type using computational methods

Mirza Jawad Ul Hasnain

doi:10.19045/bspab.2022.110068

Abstract

Insight into RIPK4 mutations I121N and T184I involved in popliteal pterygium syndrome lethal type using computational methods

Highlights

Interacting Serine/Threonine-Protein Kinase 4) gene using in silico approach
The most significant mutations of receptorinteracting protein kinase 4 (RIPK4) causing Popliteal Pterygium Syndrome are reported at positions 121 and 184; both cause a loss in functionality of RIPK45-10
Structure prediction and evaluation Secondary structure prediction The secondary structure predicted using PSIPRED showed variation in the number of residues of coils, helix, and sheets among the wild and mutant sequences of RIPK4, which confirms the effect of the mutation on the structure

Summary

Introduction

RIPK4 is a receptorinteracting serine/threonine-protein kinase that gives a large impulse for the development of stratified epithelium in the same manner as an explicit transcriptional recipient for TP63 that is responsible for the regulation of molecular events involved in the prevention of Pterygium syndrome. Homozygous transitional mutations in RIPK4, Ile121Asn, and Thr184Ile are reported to be the ground reason of functional impairment of RIPK4 cause Lethal Type of Popliteal Pterygium Syndrome. Receptor-Interacting Serine/ThreonineProtein Kinase 4 (RIPK4) is involved in causing Popliteal Pterygium Syndrome Lethal Type [4, 5]. A homozygous transversion (c.362T>A) mutation, that is caused by the substitution of conserved isoleucine with asparagine, is reported at amino acid position 121 (p.I1e121Asn) in the serine/threonine kinase domain of the protein. The sequences of all these orthologs were retrieved for the construction of a phylogenetic tree with Pairwise Sequence Alignment (PSA) and Multiple Sequence

Results

Discussion

Conclusion