Mutation:BRCA1

From Proteopedia
Jump to navigation Jump to search

Sequence

⎈ mutations with manual annotation; pathogenic; benign; not yet reviewed;
wild type Show which residues have mutations: 
BRCA1 all mutations				
	Total	non-coding	Truncating	missense coding
Pathogenic	1028	16	991	21
Benign	502	410	0	86
Not yet Classified	1755	717	205	653
Not yet Reviewed	5292	3177	750	1011

See description at [1]

Caption for this structure

Drag the structure with the mouse to rotate

ReferencesReferences

  1. ↑ Yin Y, Kundu K, Pal LR, Moult J. Ensemble variant interpretation methods to predict enzyme activity and assign pathogenicity in the CAGI4 NAGLU (Human N-acetyl-glucosaminidase) and UBE2I (Human SUMO-ligase) challenges. Hum Mutat. 2017 May 24. doi: 10.1002/humu.23267. PMID:28544272 doi:http://dx.doi.org/10.1002/humu.23267
Retrieved from "https://proteopedia.openfox.io/wiki/index.php?title=Mutation:BRCA1&oldid=2753202"