The UMD-MSH2 mutations database
Record ID: 3147

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2634G>Ap.Glu878Glu

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluGAAGluG->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)
0.991.00 (non pathogenous)71 (Probably pathogenous)

Patient and sample data


Sample IDPatient status
37_L14-046-E26720156574Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data