The UMD-MSH6 mutations database
Record ID: 2084

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3974_3976dupp.Met1326delinsLysMet

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetins3bInFIn frame ins

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH2 interaction 

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_JCS1506359175463Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data