Mutation:BRCA1

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Sequence

mutations with manual annotation;pathogenic;benign;not yet reviewed;
wild typeShow which residues have mutations:
Line 8: Line 8:
Not yet Reviewed 5292 3177 750 1011
Not yet Reviewed 5292 3177 750 1011
</pre>
</pre>
 +
See description at <ref>doi 10.1002/humu.23267</ref>
</StructureSection>
</StructureSection>
== References ==
== References ==
<references/>
<references/>

Revision as of 08:38, 4 June 2017

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References

  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

Proteopedia Page Contributors and Editors (what is this?)

Jaime Prilusky, John Moult, Lipika Ray, Joel L. Sussman, Angel Herraez

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