The UMD-MSH2 mutations database
Record ID: 1479

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS14+36G>A (c.2458+36G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
GGTGlyspl+36Spl.G>A

StructureKey Residue (HCD)Pyrimidin doubletCpG
ATPase 

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?
ttcagaacttggtaa
44.3 _
ttcagaacttAgtaa
73.2 _ *
39.5 %

Patient and sample data


Sample IDPatient status
7_2746633E02054Relative

Clinical data


Symptom

Reference


Reference IDReference
7Unpublished data