The UMD-APC mutations database
Record ID: 2554

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1266G>Tp.Glu422Asp

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluGATAspG->TTv

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

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0.940.31 (non pathogenous)29 (Polymorphism)

Patient and sample data


Sample IDPatient status
10_APC-075---890PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data