The UMD-MSH2 mutations database
Record ID: 3007

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS11-55A>G (c.1760-55A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
GGCGlyspl-55Spl.A>G

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 (%)
Cryptic Donor?
tatatctgt
46.5 _
tatgtctgt
73.3 _ *
36.6 %

Patient and sample data


Sample IDPatient status
2_02-DDM1050634872213085417Relative

Clinical data


Symptom

Reference


Reference IDReference
2Unpublished data