The UMD-APC mutations database
Record ID: 2137

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1548G>Ap.Lys516Lys

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysAAALysG->ATs

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM2 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)
0.941.00 (non pathogenous)71 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
4_40666---40666Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data