The UMD-APC mutations database
Record ID: 3270

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.423G>Tp.Arg141Ser

wt codonwt aamutant codonmutant aamutational eventmutation type
AGGArgAGTSerG->TTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, non coding strandNo

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)
0.690.00 (pathogenous)82 (Pathogenous)

Patient and sample data


Sample IDPatient status
37_P07.01-E16204121294Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data