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Results for the Protein: P59046
34223733

NAL12_HUMAN RecName: Full=NACHT, LRR and PYD domains-containing protein 12; AltName: Full=Monarch-1; AltName: Full=PYRIN-containing APAF1-like protein 7; AltName: Full=Regulated by nitric oxide

Known Diseases associated with this Protein:
  FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
1
2
1
2
0
Tips:
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Default View:

PYRIN - pfam02758
Pyrin_ASC-like - cd08321
Pyrin_NALPs - cd08320
Pyrin - cd08305
NACHT - pfam05729
LRR_RI - smart00368
LRR_RI - cd00116


Swiss-Prot Protein: P59046
Identical to: NP_653288
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pyrin_ASC-likecd083213.7e-181091
Pyrin_NALPscd083201.8e-431195
Pyrincd083056e-051390
LRR_RIcd001161.5e-437161039
PYRINpfam027587.3e-35991
NACHTpfam057298.8e-88211381
LRR_RIsmart003685e-05712739
LRR_RIsmart003681.3e-06769796
LRR_RIsmart003686.5e-07826853
LRR_RIsmart003682.8e-07883910
LRR_RIsmart003684.3e-05940967
LRR_RIsmart003680.000179971024

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs34436714 Polymorphismp.GLY39VALN/A
dbSNPrs34971363 Polymorphismp.PHE402LEUN/A
OMIM609648.0001 Diseasep.ARG284TERFAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2



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