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Results for the Protein: P19438
135959

TNR1A_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 1A; AltName: Full=Tumor necrosis factor receptor 1; Short=TNF-R1; AltName: Full=Tumor necrosis factor receptor type I; Short=TNF-RI; Short=TNFR-I; AltName: Full=p55; AltName: Full=p60; AltName: CD_antigen=CD120a; Contains: RecName: Full=Tumor necrosis factor receptor superfamily member 1A, membrane form; Contains: RecName: Full=Tumor necrosis factor-binding protein 1; Short=TBPI; Flags: Precursor

Known Diseases associated with this Protein:
  FAMILIAL HIBERNIAN FEVER (FHF)
  PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
25
2
11
1
15
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Default View:

TNFR - smart00208
TNFR - cd00185
TNFR_c6 - pfam00020
DEATH - smart00005
Death_TRAILR_DR4_DR5 - cd08315
Death - pfam00531
Death_TNFR1 - cd08313
Death - cd01670
Death_DRs - cd08784
Death_TNFRSF25_DR3 - cd08815
Death_FADD - cd08306


Swiss-Prot Protein: P19438
Identical to: NP_001056
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Death_TRAILR_DR4_DR5cd083155.5e-05352447
Deathcd016703.2e-19358439
Death_TNFR1cd083133.5e-54358438
Death_DRscd087849.8e-44358438
Death_TNFRSF25_DR3cd088154.4e-17358438
Death_FADDcd083060.00027362443
TNFR_c6pfam000203.8e-104481
TNFR_c6pfam000201.3e-1784125
TNFR_c6pfam000207.4e-12127166
Deathpfam005315.5e-21357441
TNFRsmart002082.7e-074481
TNFRsmart002083.2e-1584125
TNFRsmart002083.5e-07127166
DEATHsmart000051.5e-18352440

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019332Diseasep.ARG121GLNFamilial hibernian fever (FHF)
Swiss-ProtVAR_019305Diseasep.ARG121PROFamilial hibernian fever (FHF)
Swiss-ProtVAR_013414Diseasep.CYS117ARGFamilial hibernian fever (FHF)
Swiss-ProtVAR_013410Diseasep.CYS59ARGFamilial hibernian fever (FHF)
Swiss-ProtVAR_019303Diseasep.CYS62GLYFamilial hibernian fever (FHF)
Swiss-ProtVAR_013413Diseasep.CYS81PHEFamilial hibernian fever (FHF)
Swiss-ProtVAR_019302Diseasep.CYS59SERFamilial hibernian fever (FHF)
Swiss-ProtVAR_019304Diseasep.CYS99SERFamilial hibernian fever (FHF)
Swiss-ProtVAR_013415Diseasep.CYS117TYRFamilial hibernian fever (FHF)
Swiss-ProtVAR_013411Diseasep.CYS62TYRFamilial hibernian fever (FHF)
Swiss-ProtVAR_019329Diseasep.HIS51GLNFamilial hibernian fever (FHF)
dbSNPrs4149637 Polymorphismp.PRO75LEUN/A
Swiss-ProtVAR_019330Diseasep.PRO75LEUFamilial hibernian fever (FHF)
Swiss-ProtVAR_011813Polymorphismp.PRO305THRN/A
Swiss-ProtVAR_019331Diseasep.SER115GLYFamilial hibernian fever (FHF)
Swiss-ProtVAR_013412Diseasep.THR79METFamilial hibernian fever (FHF)
OMIM191190.0007 Diseasep.ARG92PROPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0012 Diseasep.CYS55ALAPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0003 Diseasep.CYS30ARGPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0005 Diseasep.CYS88ARGPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0009 Diseasep.CYS33GLYPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0004 Diseasep.CYS52PHEPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0008 Diseasep.CYS30SERPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0011 Diseasep.CYS70SERPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0001 Diseasep.CYS33TYRPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0006 Diseasep.CYS88TYRPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
OMIM191190.0002 Diseasep.THR50METPERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT



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