Structural implications of amyloidogenic rare variants Ser282Leu and Gln356Arg identified in h‐BRCA1
β-乳球蛋白
化学
食品科学
乳清蛋白
作者
Neha Mishra,Suchita Dubey,Anchala Kumari,Mudassar Ali Khan,Ekatherina Sh. Kuligina,Elena V. Preobrazhenskaya,Alexandr A. Romanko,Lumbini R. Yadav,Rajiv Sarin,Evgeny N. Imyanitov,Ashok K. Varma
Preliminary studies have shown BRCA1 (170-1600) residues to be intrinsically disordered with unknown structural details. However, thousands of clinically reported variants have been identified in this central region of BRCA1. Therefore, we aimed to characterize h-BRCA1(260-553) to assess the structural basis for pathogenicity of two rare missense variants Ser282Leu, Gln356Arg identified from the Indian and Russian populations respectively. Small-angle X-ray scattering analysis revealed WT scores R