In Silico Analysis Identified Putative Pathogenic Missense nsSNPs in Human SLITRK1 Gene.

ABSTRACT: Human DNA contains several variations, which can affect the structure and normal functioning of a protein. These variations could be single nucleotide polymorphisms (SNPs) or insertion-deletions (InDels). SNPs, as opposed to InDels, are more commonly present in DNA and may cause genetic disorders. In the current study, several bioinformatic tools were used to prioritize the pathogenic variants in the SLITRK1 gene. Out of all of the variants, 16 were commonly predicted to be pathogenic by these tools. All the variants had very low frequency, i.e., <0.0001 in the global population. The secondary structure of all filtered variants was predicted, but no structural change was observed at the site of variation in any variant. Protein stability analysis of these variants was then perfor

SUBMITTER: Ali MZ 

PROVIDER: S-EPMC9030497 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature