The UMD-MSH6 mutations database
Record ID: 568

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3284G>Ap.Arg1095His

wt codonwt aamutant codonmutant aamutational eventmutation type
CGCArgCACHisG->ATs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Lever NoYes

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
10.52 (non pathogenous)35 (Polymorphism)

Patient and sample data


Sample IDPatient status
41_HNPCC391_HNPCC391001_-Relative

Clinical data


Symptom

Reference


Reference IDReference
41Unpublished data