The UMD-MLH1 mutations database
Record ID: 682

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.676C>Tp.Arg226X

wt codonwt aamutant codonmutant aamutational eventmutation type
CGAArgTGAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
MutL transMLH1 transducer Yes, coding strandYes

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
19_12413_12413-001_12413-Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data