The UMD-MLH1 mutations database
Record ID: 1890

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1685A>Cp.Gln562Pro

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnCCGProA->CTv

StructureKey Residue (HCD)Pyrimidin doubletCpG
MLH3/PMS1/PMS2 interaction Yes, non coding strandNo

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)
0.920.00 (pathogenous)82 (Pathogenous)

Patient and sample data


Sample IDPatient status
7_-27284990E060146Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data