The UMD-MSH2 mutations database
Record ID: 2870

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS15+1G>A (c.2634+1G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluspl+1Spl.G>ATv

StructureKey Residue (HCD)Pyrimidin doubletCpG
MSH3/MSH6 interaction 

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 (%)
Donor
GAGgtttgt
84.4 _
GAGatttgt
57.6 _ *
-31.8 %

Patient and sample data


Sample IDPatient status
25_HCC-1365DURBRUNADK75Relative

Clinical data


Symptom

Reference


Reference IDReference
25Unpublished data