Title : The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

Pub. Date : 2016 Jun

PMID : 26888048






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 To offer insights into the potential mechanism of patient mutation, protein structural analysis was performed using the resolved structure of human activated HRAS protein with bound GTP analogue (PDB id 5P21) in Discovery Studio 4.5 (Dassault Systemes Biovia, San Diego, CA). Guanosine Triphosphate HRas proto-oncogene, GTPase Homo sapiens
2 Our analysis suggests that the p.G12 mutations slow GTP hydrolysis rendering HRAS unresponsive to GTPase activating proteins, and resulting in permanently active state. Guanosine Triphosphate HRas proto-oncogene, GTPase Homo sapiens