The UMD-MUTYH mutations database
Record ID: 1407

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.805A>Gp.Met269Val

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetGTGValA->GTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
HhH & pseudo-HhH NoNo

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)
10.00 (pathogenous)47 (Polymorphism)

Patient and sample data


Sample IDPatient status
41_APC324APC324001---Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data