The UMD-APC mutations database
Record ID: 4648

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.295C>Tp.Arg99Trp

wt codonwt aamutant codonmutant aamutational eventmutation type
CGGArgTGGTrpC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, coding strandYes

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.620.04 (pathogenous)86 (Pathogenous)

Patient and sample data


Sample IDPatient status
SO_-2833G02786G02786Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data