The UMD-APC mutations database
Record ID: 2739

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4893T>Cp.Ser1631Ser

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerAGCSerT->CTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, 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)
0.690.80 (non pathogenous)18 (Polymorphism)

Patient and sample data


Sample IDPatient status
19_11618---11618.001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data