The UMD-MSH2 mutations database
Record ID: 2235

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.297_298delAGp.Arg99SerfsX2

wt codonwt aamutant codonmutant aamutational eventmutation type
AGAArgdel2cFs.Stop at 100Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Mismatch binding 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
7_985010383E090428Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data