Classification and structural analyses of mutational landscapes in hemochromatosis factor E protein: A protein defective in the hereditary hemochromatosis

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• 作者：Mohd. Shahbaaz^a ; ¹ ; Safikur Rahman^b ; ¹ ; Parvez Khan^c ; Jihoe Kim^b ; ^{kimjihoe@ynu.ac.kr} ; Md. Imtaiyaz Hassan^c ; ^{mihassan@jmi.ac.in}
• 关键词：HH ; hereditary hemochromatosis ; HFE ; Hereditary Hemochromatosis Factor E ; MHC ; major histocompatibility complex ; RMSD ; Root Mean Square Deviations ; Rg ; Radius of Gyration ; RMSF ; Root Mean Square Fluctuations ; SASA ; Solvent Accessible Surface Area ; SVM ; Support Vector Machine ; SIFT ; Sorting Intolerant From Tolerant
• 刊名：Gene Reports
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：6
• 期：Complete
• 页码：93-102
• 全文大小：2130 K
• 卷排序：6

文摘

Sequence and structure of HFE were analyzed to find possible mutations. p.Cys282Tyr and p.His63Asp are most prevalent mutations in HFE causing hemochromatosis. MD simulations were performed to check the structure and stability. Several mutations cause decrease in the activity and stability of HFE.