The UMD-MSH2 mutations database
Record ID: 2546

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1897dupp.Ile633AsnfsX11

wt codonwt aamutant codonmutant aamutational eventmutation type
ATAIleins1bFs.Stop at 643

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
SO_-3907---G05547Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data