The UMD-MSH2 mutations database
Record ID: 3062

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2016_2135delp.Met672_Val712delinsIle

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel120cInFIn frame delInF

StructureKey Residue (HCD)Pyrimidin doubletCpG
ATP 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
41_HNPCC109HNPCC109001Proband

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data