The UMD-APC mutations database
Record ID: 4732

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1548G>Cp.Lys516Asn

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysAACAsnG->CTv

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)
0.940.00 (pathogenous)100 (Pathogenous)

Patient and sample data


Sample IDPatient status
SO_-3182G03371G03371Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data