The UMD-APC mutations database
Record ID: 4068

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.4709A>Gp.Asp1570Gly

wt codonwt aamutant codonmutant aamutational eventmutation type
GATAspGGTGlyA->GTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Axin binding domain 1 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)
0.750.10 (non pathogenous)71 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
7_98141010852E101136Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data