The UMD-APC mutations database
Record ID: 2655

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1263G>Ap.Trp421X

wt codonwt aamutant codonmutant aamutational eventmutation type
TGGTrpTGAStopG->ATs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, non 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
10_APC-125---59PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data