The UMD-APC mutations database
Record ID: 5467

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1240C>Tp.Arg414Cys

wt codonwt aamutant codonmutant aamutational eventmutation type
CGCArgTGCCysC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 NoYes

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)
0.940.01 (pathogenous)93 (Pathogenous)

Patient and sample data


Sample IDPatient status
SO_-5722G08978G08978Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data