The UMD-APC mutations database
Record ID: 2558

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.922C>Gp.Leu308Val

wt codonwt aamutant codonmutant aamutational eventmutation type
CTGLeuGTGValC->GTv

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)
0.810.00 (pathogenous)41 (Polymorphism)

Patient and sample data


Sample IDPatient status
10_APC-074---860PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data