The UMD-MSH2 mutations database
Record ID: 326

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2651T>Gp.Ile884Ser

wt codonwt aamutant codonmutant aamutational eventmutation type
ATTIleAGTSerT->GTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction Yes, 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)
0.990.00 (pathogenous)88 (Pathogenous)

Patient and sample data


Sample IDPatient status
5_1999066_19990534_---Relative

Clinical data


Symptom

Reference


Reference IDReference
5Unpublished data