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Results for the Protein: Q9HC29
20137973

NOD2_HUMAN RecName: Full=Nucleotide-binding oligomerization domain-containing protein 2; AltName: Full=Caspase recruitment domain-containing protein 15; AltName: Full=Inflammatory bowel disease protein 1

Known Diseases associated with this Protein:
  BLAU SYNDROME
  BLAU SYNDROME (BS)
  INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
  SARCOIDOSIS EARLY-ONSET (EOS)
  SARCOIDOSIS, EARLY-ONSET
  SARCOIDOSIS, EARLY-ONSET, INCLUDED
16
40
8
8
40
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Default View:

CARD - pfam00619
CARD_NOD2_1_CARD15 - cd08787
CARD - cd01671
CARD_NOD2_2_CARD15 - cd08788
NACHT - pfam05729
LRR_RI - cd00116
LRR_RI - smart00368


Swiss-Prot Protein: Q9HC29
Identical to: NP_071445
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CARD_NOD2_1_CARD15cd087873.9e-6334119
CARDcd016711.5e-16134214
CARD_NOD2_2_CARD15cd087882.6e-59134214
LRR_RIcd001162.9e-157391039
CARDpfam006191.5e-2431121
CARDpfam006196.2e-12131217
NACHTpfam057294.3e-63293463
LRR_RIsmart003681.6e-05898925
LRR_RIsmart003681.5e-059821009

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012702Polymorphismp.ALA918ASPN/A
dbSNPrs5743278 Polymorphismp.ALA725GLYN/A
Swiss-ProtVAR_012665Polymorphismp.ALA140THRN/A
Swiss-ProtVAR_012686Diseasep.ALA612THRSarcoidosis early-onset (EOS)
Swiss-ProtVAR_012700Polymorphismp.ALA885THRN/A
Swiss-ProtVAR_012674Polymorphismp.ALA301VALN/A
dbSNPrs2076754 Polymorphismp.ALA432VALN/A
Swiss-ProtVAR_012687Polymorphismp.ALA612VALN/A
Swiss-ProtVAR_012693Polymorphismp.ALA755VALN/A
Swiss-ProtVAR_012694Polymorphismp.ALA758VALN/A
Swiss-ProtVAR_012668Polymorphismp.ARG235CYSN/A
Swiss-ProtVAR_012680Polymorphismp.ARG373CYSN/A
Swiss-ProtVAR_036872Polymorphismp.ARG471CYSN/A
Swiss-ProtVAR_012690Polymorphismp.ARG703CYSN/A
Swiss-ProtVAR_012691Polymorphismp.ARG713CYSN/A
Swiss-ProtVAR_012676Diseasep.ARG334GLNBlau syndrome (BS)
dbSNPrs5743279 Polymorphismp.ARG790GLNN/A
Swiss-ProtVAR_012675Polymorphismp.ARG311TRPN/A
Swiss-ProtVAR_012677Diseasep.ARG334TRPBlau syndrome (BS)
Swiss-ProtVAR_012688Polymorphismp.ARG684TRPN/A
dbSNPrs2066844 Polymorphismp.ARG702TRPN/A
Swiss-ProtVAR_012671Polymorphismp.ASN289SERN/A
Swiss-ProtVAR_012681Polymorphismp.ASN414SERN/A
Swiss-ProtVAR_012698Polymorphismp.ASN853SERN/A
Swiss-ProtVAR_012672Polymorphismp.ASP291ASNN/A
Swiss-ProtVAR_023822Diseasep.ASP382GLUSarcoidosis early-onset (EOS)
dbSNPrs61736931 Polymorphismp.GLN809ARGN/A
Swiss-ProtVAR_023823Diseasep.GLU383LYSBlau syndrome (BS)
Swiss-ProtVAR_012684Polymorphismp.GLU441LYSN/A
Swiss-ProtVAR_012695Polymorphismp.GLU778LYSN/A
Swiss-ProtVAR_012697Polymorphismp.GLU843LYSN/A
dbSNPrs2066845 Polymorphismp.GLY908ARGN/A
Swiss-ProtVAR_012703Polymorphismp.GLY924ASPN/A
Swiss-ProtVAR_012679Polymorphismp.HIS352ARGN/A
Swiss-ProtVAR_023824Diseasep.HIS496LEUSarcoidosis early-onset (EOS)
Swiss-ProtVAR_012669Polymorphismp.LEU248ARGN/A
Swiss-ProtVAR_012685Diseasep.LEU469PHEBlau syndrome (BS)
Swiss-ProtVAR_012678Polymorphismp.LEU348VALN/A
Swiss-ProtVAR_036871Polymorphismp.LEU81VALN/A
Swiss-ProtVAR_012699Polymorphismp.MET863VALN/A
dbSNPrs2066842 Polymorphismp.PRO268SERN/A
Swiss-ProtVAR_012682Polymorphismp.SER431LEUN/A
Swiss-ProtVAR_065228Diseasep.THR605ASNBlau syndrome (BS)
Swiss-ProtVAR_012667Polymorphismp.THR189METN/A
Swiss-ProtVAR_012673Polymorphismp.THR294SERN/A
Swiss-ProtVAR_012666Polymorphismp.TRP157ARGN/A
dbSNPrs5743291 Polymorphismp.VAL955ILEN/A
Swiss-ProtVAR_012696Polymorphismp.VAL793METN/A
OMIM605956.0004 Diseasep.ARG334GLNBLAU SYNDROME
OMIM605956.0006 Diseasep.ARG334TRPBLAU SYNDROME||SARCOIDOSIS, EARLY-ONSET, INCLUDED
OMIM605956.0003 Diseasep.ARG702TRPINFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
OMIM605956.0009 Diseasep.ASP382GLUSARCOIDOSIS, EARLY-ONSET
OMIM605956.0011 Diseasep.GLU383LYSBLAU SYNDROME
OMIM605956.0002 Diseasep.GLY908ARGINFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO
OMIM605956.0008 Diseasep.HIS496LEUSARCOIDOSIS, EARLY-ONSET
OMIM605956.0005 Diseasep.LEU469PHEBLAU SYNDROME



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