Mutation Analysis

We help researchers to analyze how a mutation may affect  the protein structure and function.

We model the structure of the mutated protein and compare it to the wild-type structure. ​We also build multiple sequence alignments to identify the degree of conservation of a point mutation.

For example:

• A novel MKRN3 missense mutation causing familial precocious puberty. de Vries L, Gat-Yablonski G, Dror N, Singer A, Phillip M. Hum Reprod. 2014 Dec;29(12):2838-43 (Abstract) (Full Text)
   
• D538G Mutation in Estrogen Receptor-α: A Novel Mechanism for Acquired Endocrine Resistance in Breast Cancer.. Merenbakh-Lamin K, Ben-Baruch N, Yeheskel A, Dvir A, Soussan-Gutman L, Jeselsohn R, Yelensky R, Brown M, Miller VA, Sarid D, Rizel S, Klein B, Rubinek T, Wolf I. Cancer Res. 2013 Dec 1;73(23):6856-64 (Abstract) (Full Text)
   
• Homozygous MED25 Mutation Implicated in Eye-Intellectual Disability Syndrome. Lina Basel-Vanagaite, Pola Smirin-Yosef, Jenna Lee Essakow, Shay Tzur, Irina Lagovsky, Idit Maya, Metsada Pasmanik-Chor, Adva Yeheskel, Osnat Konen, Naama Orenstein, Monika Weisz Hubshman, Valerie Drasinover, Nurit Magal, Gaby Peretz Amit, Yael Zalzstein, Avraham Zeharia, Mordechai Shohat, Didier Monté, Mali Salmon-Divon, Doron M. Behar. Human Genetics: 134(6):577-87, 2015. (Abstract) (Full Text)