The UMD-MSH2 mutations database
Record ID: 1400

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2235_2237delAATp.Ile746del

wt codonwt aamutant codonmutant aamutational eventmutation type
ATAIledel3cInFIn frame delInF

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
41_HNPCC019_HNPCC019002_-Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data