The UMD-MSH2 mutations database
Record ID: 2157

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS15-11A>G (c.2635-11A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnspl-11Spl.A>G

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 (%)
Cryptic Donor?
cacatgtgt
52.2 _
cacgtgtgt
79 _ *
34 %

Patient and sample data


Sample IDPatient status
7_-62245184E060402Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data