The UMD-MLH1 mutations database
Record ID: 1168

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.885_1409delp.Ser295_Pro469del

wt codonwt aamutant codonmutant aamutational eventmutation type
AGTSerdel525cInFIn frame delInF

StructureKey Residue (HCD)Pyrimidin doubletCpG
MutL transMLH1 transducer 

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
37_L05.02-E_2843_30818Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data