The UMD-APC mutations database
Record ID: 3192

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS2-2A>G (c.221-2A>G)

wt codonwt aamutant codonmutant aamutational eventmutation type
GAGGluspl-2Spl.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 (%)
Acceptor
tattttatttagAG
79.6 _
tattttatttggAG
50.6 _ *
-36.4 %

Patient and sample data


Sample IDPatient status
33_SAT289---08-206Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data