Open AccessBioinformatics methods for identifying Hirschsprung disease genes
Author(s) -
Sudheer Me
Publication year - 2021
Publication title -
international journal for research in applied science and engineering technology
Language(s) - English
Resource type - Journals
ISSN - 2321-9653
DOI - 10.22214/ijraset.2021.37045
Subject(s) - hirschsprung's disease , enteric nervous system , gene , mutation , disease , biology , genetics , bioinformatics , function (biology) , gene mutation , medicine , pathology , neuroscience
Hirschsprung is a birth defect of Enteric Nervous System (ENS) which is characterized by the absence of enteric neurons along the length of intestine. Hirschsprung is one of the complex diseases which has become a important topic of human genetics. In this article we have focused on RET gene mutation that is most common cause of HSCR disease. Out of seven mutations in RET gene, one mutation S339L is found to be tolerated and have no effect on protein function.