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Results for the Protein: Q92838
6166135
EDA

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
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TNFcd001844.8e-30249383
Collagenpfam013913.5e-11180241
TNFpfam002291.7e-26272385

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005190Diseasep.ALA356ASPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005189Diseasep.ALA349THREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064870Diseasep.ALA356VALEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054454Diseasep.ARG153CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005182Diseasep.ARG155CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005183Diseasep.ARG156CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064858Diseasep.ARG156GLYEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_029534Diseasep.ARG65GLYTooth agenesis selective X-linked 1 (STHAGX1)
Swiss-ProtVAR_005184Diseasep.ARG156HISEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005181Diseasep.ARG69LEUEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005191Diseasep.ARG357PROEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054455Diseasep.ARG156SEREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054473Diseasep.ASN372ASPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_010615Diseasep.ASP298HISEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054466Diseasep.ASP298TYREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_013484Diseasep.CYS60ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_011080Diseasep.CYS332TYREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064869Diseasep.CYS346TYREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054471Diseasep.GLN358GLUEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054467Diseasep.GLN306HISEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005180Diseasep.GLU63LYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054462Diseasep.GLY198ALAEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005186Diseasep.GLY224ALAEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054463Diseasep.GLY207ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_010613Diseasep.GLY291ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064871Diseasep.GLY381ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054464Diseasep.GLY218ASPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_011078Diseasep.GLY255ASPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064866Diseasep.GLY299ASPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_011077Diseasep.GLY255CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054460Diseasep.GLY189GLUEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005188Diseasep.GLY299SEREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_010614Diseasep.GLY291TRPEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064860Diseasep.GLY207VALEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_013486Diseasep.GLY269VALEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005187Diseasep.HIS252LEUEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_013485Diseasep.HIS252TYREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_010611Diseasep.HIS54TYREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054472Diseasep.ILE360ASNEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064862Diseasep.LEU266ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_010612Diseasep.LEU55ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064864Diseasep.LEU293PROEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_067250Diseasep.LEU354PROEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064865Diseasep.LEU296VALEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054456Diseasep.LYS158ASNEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054474Diseasep.MET373ILEEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_013487Diseasep.PHE302SEREctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_036590Polymorphismp.PRO118LEUN/A
Swiss-ProtVAR_005185Diseasep.PRO209LEUEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_067319Diseasep.SER319ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054475Diseasep.SER374ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064861Diseasep.THR211ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064868Diseasep.THR338METTooth agenesis selective X-linked 1 (STHAGX1)
Swiss-ProtVAR_013488Diseasep.THR378METEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054476Diseasep.THR378PROEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064863Diseasep.TRP274ARGEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_011079Diseasep.TRP274GLYEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054469Diseasep.TYR320CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054470Diseasep.TYR343CYSEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_005179Diseasep.TYR61HISEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_054468Diseasep.VAL307GLYEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
Swiss-ProtVAR_064867Diseasep.VAL323GLYEctodermal dysplasia 1, hypohidrotic, X-linked (XHED)
OMIM300451.0010 Diseasep.ALA349THRECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0005 Diseasep.ARG155CYSECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0006 Diseasep.ARG156CYSECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0019 Diseasep.ARG276CYSECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0014 Diseasep.ARG65GLYTOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM300451.0007 Diseasep.ARG156HISECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0002 Diseasep.ARG69LEUECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0015 Diseasep.GLN358GLUTOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM300451.0003 Diseasep.GLN23TERECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0004 Diseasep.GLU63LYSECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0009 Diseasep.GLY224ALAECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0008 Diseasep.PRO209LEUECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0018 Diseasep.THR338METTOOTH AGENESIS, SELECTIVE, X-LINKED, 1
OMIM300451.0001 Diseasep.TYR61HISECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
OMIM300451.0011 Diseasep.TYR61TERECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED



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