Sarcoma / 2015 / Article / Tab 4 / Research Article
Molecular Analysis of a Recurrent Sarcoma Identifies a Mutation in FAF1 Table 4 FAF1 mutations in various cancers. FAF1 mutations listed in the TCGA data base were identified without restriction to any type of cancer. For the location of the affected domains on the protein compare Figure
2 .
AA Mutation Cancer Domain N4S Missense Cutaneous melanoma I10S Missense Stomach adenocarcinoma UBA E21* Nonsense Cutaneous melanoma UBA E25K Missense Uterine endometrioid carcinoma UBA V38_splice Splice Stomach adenocarcinoma UBA P86fs FS del Colorectal adenocarcinoma G123_splice Splice Uterine endometrioid carcinoma UB1 P136H Missense Colorectal adenocarcinoma UB1 T147M Missense Brain lower grade glioma UB1 D149Y Missense Uterine endometrioid carcinoma UB1 L159V Missense Lung adenocarcinoma UB1 K163N Missense Uterine endometrioid carcinoma UB1 L170F Missense Cutaneous melanoma G184_splice Splice Colorectal cancer Q187H Missense Stomach adenocarcinoma S214N Missense Colorectal adenocarcinoma UB2 R222I Missense Uterine endometrioid carcinoma UB2 E238D Missense Lung adenocarcinoma UB2 P241S Missense Uterine endometrioid carcinoma UB2 T245A Missense Renal clear cell carcinoma UB2 M249V Missense Uterine endometrioid carcinoma UB2 E280K Missense Brain lower grade glioma G293* Nonsense Colorectal cancer T300I Missense Colorectal adenocarcinoma D305H Missense Lung adenocarcinoma E308Q Missense Lung adenocarcinoma A316V Missense Stomach adenocarcinoma K319fs FS ins Head and neck squamous cell carcinoma R344G Missense Stomach adenocarcinoma UAS F353I Missense Cutaneous melanoma UAS L379V Missense Breast invasive carcinoma UAS C396F Missense Cutaneous melanoma UAS S459* Nonsense Uterine endometrioid carcinoma UAS G469_splice Splice Glioblastoma multiforme UAS R509G Missense Lung squamous cell carcinoma E510fs FS del Cutaneous melanoma R516C Missense Uterine endometrioid carcinoma A534V Missense Stomach adenocarcinoma F537L Missense Stomach adenocarcinoma E551* Nonsense Lung adenocarcinoma R554W Missense Colorectal cancer S582I Missense Lung adenocarcinoma UBX F585L Missense Uterine endometrioid carcinoma UBX E587* Nonsense Lung adenocarcinoma UBX A592V Missense Stomach adenocarcinoma UBX W610* Nonsense Breast invasive carcinoma UBX D611Y Missense Lung adenocarcinoma UBX E635fs FS del Brain lower grade glioma UBX P640fs FS del Cutaneous melanoma UBX
