The UMD-APC mutations database
Record ID: 2301

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.435_441dupp.Leu148CysfsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
CTTLeuins7aFs.Stop at 149

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
4_29424---29424Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data