The UMD-MSH2 mutations database
Record ID: 2872

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS15-24A>G (c.2635-24A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnspl-24Spl.A>GTv

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 Acceptor?
tttaattactaatgg
48 _
tttaattactaGtgg
77 _ *
37.6 %

Patient and sample data


Sample IDPatient status
37_L13.10722876144305Relative

Clinical data


Symptom

Reference


Reference IDReference
37Unpublished data