The UMD-MSH2 mutations database
Record ID: 2961

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2802G>Ap.Thr934Thr

wt codonwt aamutant codonmutant aamutational eventmutation type
ACGThrACAThrG->ATs

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)
0.071.00 (non pathogenous)23 (Polymorphism)

Patient and sample data


Sample IDPatient status
41_HNPCC99HNPCC099001Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data