The UMD-APC mutations database
Record ID: 3100

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.5208A>Gp.Lys1736Lys

wt codonwt aamutant codonmutant aamutational eventmutation type
AAALysAAGLysA->GTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Axin binding domain 2 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)
0.51.00 (non pathogenous)18 (Polymorphism)

Patient and sample data


Sample IDPatient status
33_SAT509---09-1693Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data