The UMD-APC mutations database
Record ID: 3951

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3086_3087delTTp.Leu1029GlnfsX5

wt codonwt aamutant codonmutant aamutational eventmutation type
CTTLeudel2bFs.Stop at 1033Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Beta-catenin binding domain 1 

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_8424800746E080840Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data