The UMD-APC mutations database
Record ID: 2215

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.147_150delACAAp.Lys49AsnfsX20

wt codonwt aamutant codonmutant aamutational eventmutation type
AAALysdel4cFs.Stop at 68Fr.

StructureKey Residue (HCD)Pyrimidin doubletCpG
Dimerization domain 

Mutation impact


At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

Patient and sample data


Sample IDPatient status
4_36408---36408Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data