The UMD-MSH2 mutations database
Record ID: 2873

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2656G>Ap.Glu886Lys

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluAAGLysG->ATs

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction Yes, non 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)
0.990.34 (non pathogenous)47 (Polymorphism)

Patient and sample data


Sample IDPatient status
2_02-DDM978032693212226442Relative

Clinical data


Symptom

Reference


Reference IDReference
2Unpublished data