The UMD-MEN1 mutations database
Record ID: 1845

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.435C>Tp.Ser145SerPolymorphism

wt codonwt aamutant codonmutant aamutational eventmutation type
AGCSerAGTSerC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Ju, Sm,NM,HD Yes, coding strandNo

Mutation impact


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

Conservation (0-1)SIFT (0-1)UMD-predictor (0-100)
0 - 23 (Polymorphism)

Patient and sample data


Sample IDPatient statusGenderTransmissionAge of onsetAge of DeathGeographic origin
000-000-0Proband

Phenotypic groupDisease
Not availablePlease contact curator

Reference


Reference IDPubMed IDReference
0Í