The UMD-MSH2 mutations database
Record ID: 202

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2166_2173delp.Ser723HisfsX3

wt codonwt aamutant codonmutant aamutational eventmutation type
GTCValdel8cFs.Stop at 725Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
ATPase 

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
4_CF1275_---_---Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data