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Results for the Protein: Q9UNE0
21263572

EDAR_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member EDAR; AltName: Full=Anhidrotic ectodysplasin receptor 1; AltName: Full=Downless homolog; AltName: Full=EDA-A1 receptor; AltName: Full=Ectodermal dysplasia receptor; AltName: Full=Ectodysplasin-A receptor; Flags: Precursor

Known Diseases associated with this Protein:
  DOMINANT
  ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAI
  ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
  ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL
  ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (ECTD10B)
  HAIR MORPHOLOGY 1, HAIR THICKNESS
  RECESSIVE
25
2
8
2
17
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TNFR - cd00185
Death_p75NR - cd08311
Death - pfam00531


Swiss-Prot Protein: Q9UNE0
Identical to: NP_071731
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Death_p75NRcd083110.00059354428
Deathpfam005319.5e-06358431

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064831Diseasep.ARG358GLNEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_013450Diseasep.ARG420GLNEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_064830Diseasep.ARG98GLNEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054447Diseasep.ARG375HISEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_013449Diseasep.ARG89HISEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054445Diseasep.ASP110ALAEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054446Diseasep.CYS148ARGEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_013448Diseasep.CYS87ARGEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054444Diseasep.CYS47TYREctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054449Diseasep.GLY382SEREctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_064833Diseasep.ILE408PHEEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054452Diseasep.ILE418THREctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054448Diseasep.LEU377PHEEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
dbSNPrs61761321 Polymorphismp.MET107VALN/A
Swiss-ProtVAR_054450Diseasep.THR403METEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054451Diseasep.THR413PROEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_064834Diseasep.TRP434ARGEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
Swiss-ProtVAR_054453Diseasep.TRP434CYSEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B)
dbSNPrs3827760 Polymorphismp.VAL370ALAN/A
OMIM604095.0006 Diseasep.ARG420GLNECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT
OMIM604095.0008 Diseasep.ARG375HISECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE
OMIM604095.0002 Diseasep.ARG89HISECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE||ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAI
OMIM604095.0005 Diseasep.ARG358TERECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT
OMIM604095.0009 Diseasep.ASP110ALAECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE
OMIM604095.0004 Diseasep.CYS87ARGECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||RECESSIVE
OMIM604095.0010 Diseasep.GLU354TERECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL||DOMINANT
OMIM604095.0011 Diseasep.VAL370ALAHAIR MORPHOLOGY 1, HAIR THICKNESS



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