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]

ALICE was beginning to get very tired of sitting by her sister on the bank, and of having nothing to do: once or twice she had peeped into the book her sister was reading, but it had no pictures or conversations in it, "and what is the use of a book," thought Alice,"without pictures or conversations?" So she was considering in her own mind (as well as she could, for the hot day made her feel very sleepy and stupid) whether the pleasure of making a daisy-chain would be worth the trouble of getting up and picking the daisies, when suddenly a White Rabbit with pink eyes ran close by her.There was nothing so _very_ remarkable in that; nor did Alice think it so _very_ much out of the way to hear the Rabbit say to itself, "Ohdear! Oh dear! I shall be too late!" (when she thought it over afterwards, it occurred to her that she ought to have wondered at this,but at the time it all seemed quite natural); but when the Rabbit actually _took a watch out of its waistcoat-pocket_, and looked at it,and then hurried on, Alice started to her feet, for it flashed across her mind that she had never before seen a rabbit with either a waist coat-pocket, or a watch to take out of it, and burning with curiosity, she ran across the field after it, and was just in time to see it pop down a large rabbit-hole under the hedge.In another moment down went Alice after it, never once considering how in the world she was to get out again.The rabbit-hole went straight on like a tunnel for some way, and then dipped suddenly down, so suddenly that Alice had not a moment to think about stopping herself before she found herself falling down what seemed to be a very deep well. [2]

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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
  2. Alice's Adventures in Wonderland by Lewis Carroll