Results for the protein: Q92838

Results for the Protein: Q92838

6166135

1896

EDA

NCBI, UniProt

EDA_HUMAN RecName: Full=Ectodysplasin-A; AltName: Full=Ectodermal dysplasia protein; Short=EDA protein; Contains: RecName: Full=Ectodysplasin-A, membrane form; Contains: RecName: Full=Ectodysplasin-A, secreted form

Known Diseases associated with this Protein:
  ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED (XHED)
  ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
  TOOTH AGENESIS SELECTIVE X-LINKED 1 (STHAGX1)
  TOOTH AGENESIS, SELECTIVE, X-LINKED, 1

76

1

15

0

62

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Default View: Collagen - pfam01391 TNF - cd00184 TNF - pfam00229	Swiss-Prot Protein: Q92838 Identical to: NP_001390 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	3.5e-11	180	241
TNF	pfam00229	1.7e-26	272	385

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005190	Disease	p.ALA356ASP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005189	Disease	p.ALA349THR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064870	Disease	p.ALA356VAL	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054454	Disease	p.ARG153CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005182	Disease	p.ARG155CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005183	Disease	p.ARG156CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064858	Disease	p.ARG156GLY	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_029534	Disease	p.ARG65GLY	Tooth agenesis selective X-linked 1 (STHAGX1)
Swiss-Prot	VAR_005184	Disease	p.ARG156HIS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005181	Disease	p.ARG69LEU	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005191	Disease	p.ARG357PRO	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054455	Disease	p.ARG156SER	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054473	Disease	p.ASN372ASP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_010615	Disease	p.ASP298HIS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054466	Disease	p.ASP298TYR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_013484	Disease	p.CYS60ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_011080	Disease	p.CYS332TYR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064869	Disease	p.CYS346TYR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054471	Disease	p.GLN358GLU	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054467	Disease	p.GLN306HIS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005180	Disease	p.GLU63LYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054462	Disease	p.GLY198ALA	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005186	Disease	p.GLY224ALA	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054463	Disease	p.GLY207ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_010613	Disease	p.GLY291ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064871	Disease	p.GLY381ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054464	Disease	p.GLY218ASP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_011078	Disease	p.GLY255ASP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064866	Disease	p.GLY299ASP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_011077	Disease	p.GLY255CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054460	Disease	p.GLY189GLU	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005188	Disease	p.GLY299SER	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_010614	Disease	p.GLY291TRP	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064860	Disease	p.GLY207VAL	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_013486	Disease	p.GLY269VAL	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005187	Disease	p.HIS252LEU	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_013485	Disease	p.HIS252TYR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_010611	Disease	p.HIS54TYR	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054472	Disease	p.ILE360ASN	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064862	Disease	p.LEU266ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_010612	Disease	p.LEU55ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064864	Disease	p.LEU293PRO	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_067250	Disease	p.LEU354PRO	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064865	Disease	p.LEU296VAL	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054456	Disease	p.LYS158ASN	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054474	Disease	p.MET373ILE	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_013487	Disease	p.PHE302SER	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_036590	Polymorphism	p.PRO118LEU	N/A
Swiss-Prot	VAR_005185	Disease	p.PRO209LEU	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_067319	Disease	p.SER319ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054475	Disease	p.SER374ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064861	Disease	p.THR211ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064868	Disease	p.THR338MET	Tooth agenesis selective X-linked 1 (STHAGX1)
Swiss-Prot	VAR_013488	Disease	p.THR378MET	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054476	Disease	p.THR378PRO	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064863	Disease	p.TRP274ARG	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_011079	Disease	p.TRP274GLY	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054469	Disease	p.TYR320CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054470	Disease	p.TYR343CYS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_005179	Disease	p.TYR61HIS	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_054468	Disease	p.VAL307GLY	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-Prot	VAR_064867	Disease	p.VAL323GLY	Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED)
OMIM	300451.0010	Disease	p.ALA349THR	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0005	Disease	p.ARG155CYS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0006	Disease	p.ARG156CYS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0019	Disease	p.ARG276CYS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0014	Disease	p.ARG65GLY	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM	300451.0007	Disease	p.ARG156HIS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0002	Disease	p.ARG69LEU	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0015	Disease	p.GLN358GLU	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM	300451.0003	Disease	p.GLN23TER	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0004	Disease	p.GLU63LYS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0009	Disease	p.GLY224ALA	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0008	Disease	p.PRO209LEU	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0018	Disease	p.THR338MET	TOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM	300451.0001	Disease	p.TYR61HIS	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM	300451.0011	Disease	p.TYR61TER	ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED

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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