The UMD-MSH2 mutations database
Record ID: 2576

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2662C>Tp.Leu888Leu

wt codonwt aamutant codonmutant aamutational eventmutation type
CTGLeuTTGLeuC->TTs

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)
0.991.00 (non pathogenous)23 (Polymorphism)

Patient and sample data


Sample IDPatient status
SO_-4181---G06210Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data