The UMD-MSH2 mutations database
Record ID: 3082

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS6-11delATTTA (c.1077-11delATTTA)

wt codonwt aamutant codonmutant aamutational eventmutation type
AGAArgspl-11Spl.delATTTA

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Impact on splicing
Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
aatttatttcagAT
85.1 _
atttcagATTTGAA
45.8 _ *
-46.1 %

Patient and sample data


Sample IDPatient status
29311_29311-00129311-001Relative

Clinical data


Symptom

Reference


Reference IDReference
19Unpublished data