The UMD-MSH2 mutations database
Record ID: 378

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2681T>Gp.Met894Arg

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetAGGArgT->GTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction 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)
0.850.31 (non pathogenous)71 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
6_608272_B66650_S7840Relative

Clinical data


Symptom

Reference


Reference IDReference
6Unpublished data