The UMD-MLH1 mutations database
Record ID: 3015

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.790C>Tp.His264Tyr

wt codonwt aamutant codonmutant aamutational eventmutation type
CATHisTATTyrC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
HhH & pseudo-HhH Yes, 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)
10.01 (pathogenous)64 (Probable polymorphism)

Patient and sample data


Sample IDPatient status
5_201416119814448AAI917Relative

Clinical data


Symptom

Reference


Reference IDReference
5Unpublished data