The UMD-APC mutations database
Record ID: 2705

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.1_531delp.Met1?

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel531aInFIn frame delInF

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

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
10_APC-047---587PRelative

Clinical data


Symptom

Reference


Reference IDReference
10Unpublished data