The UMD-MLH1 mutations database
Record ID: 589

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1897_2271delp.Glu633ValfsX26

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGludel375aInFStop at 658InF

StructureKey Residue (HCD)Pyrimidin doubletCpG
MLH3/PMS1/PMS2 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
19_13119_13119-002_13119-Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data