Case Report
Copyright ©The Author(s) 2019.
World J Clin Cases. Sep 6, 2019; 7(17): 2630-2636
Published online Sep 6, 2019. doi: 10.12998/wjcc.v7.i17.2630
Table 1 Functional evaluation of the ATP7B mutations detected
Base changeExon numberAmino acid changePolyPhen-2 analysisSIFT analysisMutationTaster analysis
c.2333G>T8p.Arg778LeuProbably damagingDamagingPolymorphism
c.3809A>G18p.Asn1270SerProbably damagingDamagingDisease causing