The UMD-MSH2 mutations database
Record ID: 2521

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.631G>Ap.Gly211Arg

wt codonwt aamutant codonmutant aamutational eventmutation type
GGGGlyAGGArgG->ATs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Connector 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)
0.980.15 (non pathogenous)82 (Pathogenous)

Patient and sample data


Sample IDPatient status
SO_-3758---G05163Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data