The UMD-APC mutations database
Record ID: 2281

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation status
c.3631dupp.Met1211AsnfsX6

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetins1bFs.Stop at 1216

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
4_34098---28635Relative

Clinical data


Symptom

Reference


Reference IDReference
4Unpublished data