The UMD-MLH1 mutations database
Record ID: 2284

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.2078_2079delAGp.Glu693GlyfsX10

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGludel2bFs.Stop at 702Fr.

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
SO_-3073---G03169Relative

Clinical data


Symptom

Reference


Reference IDReference
71Unpublished data