Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O43918
3334119
326

AIRE_HUMAN RecName: Full=Autoimmune regulator; AltName: Full=Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy protein; Short=APECED protein

Known Diseases associated with this Protein:
  AUTOIMMUNE POLYENDOCRINE SYNDROME 1 (APS1)
  AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
  AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
26
3
6
1
22
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Sp100 - pfam03172
SAND - pfam01342
SAND - smart00258
PHD - smart00249
PHD - pfam00628


Swiss-Prot Protein: O43918
Identical to: NP_000374
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sp100pfam031727.7e-491106
SANDpfam013422.2e-21189262
PHDpfam006286e-19298343
SANDsmart002589.2e-18197262
PHDsmart002491e-15298340
PHDsmart002493e-07433475

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026481Diseasep.ALA21VALAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_026480Diseasep.ARG15CYSAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013713Diseasep.ARG15LEUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013723Diseasep.CYS311TYRAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013722Polymorphismp.GLY305SERN/A
Swiss-ProtVAR_014422Diseasep.GLY228TRPAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013720Diseasep.LEU93ARGAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_005004Diseasep.LEU28PROAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013715Diseasep.LEU29PROAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_005005Diseasep.LYS83GLUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_026483Diseasep.PHE77SERAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013724Diseasep.PRO326GLNAutoimmune polyendocrine syndrome 1 (APS1)
dbSNPrs34397615 Polymorphismp.PRO252LEUN/A
Swiss-ProtVAR_026484Diseasep.PRO252LEUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_026485Diseasep.PRO326LEUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_026486Diseasep.PRO539LEUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_005006Polymorphismp.SER278ARGN/A
Swiss-ProtVAR_013714Diseasep.THR16METAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013716Diseasep.TRP78ARGAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013718Diseasep.TYR85CYSAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013719Diseasep.TYR90CYSAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013717Diseasep.VAL80LEUAutoimmune polyendocrine syndrome 1 (APS1)
Swiss-ProtVAR_013721Diseasep.VAL301METAutoimmune polyendocrine syndrome 1 (APS1)
OMIM607358.0004 Diseasep.ARG139TERAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM607358.0001 Diseasep.ARG257TERAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM607358.0007 Diseasep.GLY228TRPAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
OMIM607358.0002 Diseasep.LYS83GLUAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM607358.0008 Diseasep.MET1LEUAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM607358.0011 Diseasep.VAL80GLYAUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258