The UMD-APC mutations database
Record ID: 5633

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1370C>Ap.Ser457X

wt codonwt aamutant codonmutant aamutational eventmutation type
TCASerTAAStopC->ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM1 Yes, coding strandNo

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
7_-5797ILP0611900E070131Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data