The UMD-MSH6 mutations database
Record ID: 1959

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS6-7delTTTT (c.3557-7delTTTT)

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGluspl-7Spl.delTTTT

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 (%)
Acceptor
tttttttttaagGT
88.3 _
tttttaagGTTGAA
48.6 _ *
-44.9 %

Patient and sample data


Sample IDPatient status
2_02-DDM1024836306213224443Relative

Clinical data


Symptom

Reference


Reference IDReference
2Unpublished data