The UMD-APC mutations database
Record ID: 3198

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.IVS11+1G>A (c.1548+1G>A)

wt codonwt aamutant codonmutant aamutational eventmutation type
AAGLysspl+1Spl.G>A

StructureKey Residue (HCD)Pyrimidin doubletCpG
ASEF binding domain ARM2 

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 (%)
Donor
AAGtatgtt
19.7 _
AAGaatgtt
19.7 _
0 %

Patient and sample data


Sample IDPatient status
33_PSL1541---08-283Relative

Clinical data


Symptom

Reference


Reference IDReference
33Unpublished data