The UMD-MSH2 mutations database
Record ID: 1522

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2766T>Gp.Phe922Leu

wt codonwt aamutant codonmutant aamutational eventmutation type
TTTPheTTGLeuT->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)
0.930.33 (non pathogenous)47 (Polymorphism)

Patient and sample data


Sample IDPatient status
7_2959858E03057Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data