The UMD-MSH2 mutations database
Record ID: 1899

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2801C>Tp.Thr934Met

wt codonwt aamutant codonmutant aamutational eventmutation type
ACGThrATGMetC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction NoYes

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)
0.070.01 (pathogenous)88 (Pathogenous)

Patient and sample data


Sample IDPatient status
7_-5945---E050593Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data