Results for the protein: O43918

Results for the Protein: O43918

3334119

326

AIRE

NCBI, UniProt

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:

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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 ↕
SAND	pfam01342	2.2e-21	189	262
PHD	pfam00628	6e-19	298	343
SAND	smart00258	9.2e-18	197	262
PHD	smart00249	1e-15	298	340
PHD	smart00249	3e-07	433	475

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026481	Disease	p.ALA21VAL	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_026480	Disease	p.ARG15CYS	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013713	Disease	p.ARG15LEU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013723	Disease	p.CYS311TYR	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013722	Polymorphism	p.GLY305SER	N/A
Swiss-Prot	VAR_014422	Disease	p.GLY228TRP	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013720	Disease	p.LEU93ARG	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_005004	Disease	p.LEU28PRO	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013715	Disease	p.LEU29PRO	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_005005	Disease	p.LYS83GLU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_026483	Disease	p.PHE77SER	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013724	Disease	p.PRO326GLN	Autoimmune polyendocrine syndrome 1 (APS1)
dbSNP	rs34397615	Polymorphism	p.PRO252LEU	N/A
Swiss-Prot	VAR_026484	Disease	p.PRO252LEU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_026485	Disease	p.PRO326LEU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_026486	Disease	p.PRO539LEU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_005006	Polymorphism	p.SER278ARG	N/A
Swiss-Prot	VAR_013714	Disease	p.THR16MET	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013716	Disease	p.TRP78ARG	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013718	Disease	p.TYR85CYS	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013719	Disease	p.TYR90CYS	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013717	Disease	p.VAL80LEU	Autoimmune polyendocrine syndrome 1 (APS1)
Swiss-Prot	VAR_013721	Disease	p.VAL301MET	Autoimmune polyendocrine syndrome 1 (APS1)
OMIM	607358.0004	Disease	p.ARG139TER	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM	607358.0001	Disease	p.ARG257TER	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM	607358.0007	Disease	p.GLY228TRP	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
OMIM	607358.0002	Disease	p.LYS83GLU	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM	607358.0008	Disease	p.MET1LEU	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I
OMIM	607358.0011	Disease	p.VAL80GLY	AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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