The UMD-APC mutations database
Record ID: 2586

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1495_1498dupp.Tyr500SerfsX38

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrins4bFs.Stop at 537

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM2 

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
10_APC-102---1221PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data