The UMD-MSH2 mutations database
Record ID: 3031

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS14-12A>G (c.2459-12A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
GGTGlyspl-12Spl.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 Acceptor?
acgcttccccaaatt
56.5 _
acgcttccccaGatt
85.5 _ *
33.9 %

Patient and sample data


Sample IDPatient status
31_H1308H1308-4H1308-4ARelative

Clinical data


Symptom

Reference


Reference IDReference
31Unpublished data