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Results for the Protein: NP_001028225
74271814

NACHT, LRR and PYD domains-containing protein 1 isoform 5 [Homo sapiens]

Known Diseases associated with this Protein:
  CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 FAMILY)
  VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
2
11
2
11
0
Tips:
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Default View:

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




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pyrincd083057.4e-42987
LRR_RIcd001161.2e-187051017
PYRINpfam027582.3e-10588
NACHTpfam057293.1e-77328497
LRR_RIsmart003689.5e-05807834
LRR_RIsmart003683.2e-06864891
LRR_RIsmart003681.5e-08921948

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3744718 Polymorphismp.ARG404GLNN/A
dbSNPrs73973843 Polymorphismp.ILE601PHEN/A
dbSNPrs12150220 Polymorphismp.LEU155HISN/A
dbSNPrs35596958 Polymorphismp.MET1123VALN/A
dbSNPrs11651270 Polymorphismp.MET1188VALN/A
dbSNPrs34733791 Polymorphismp.THR995ILEN/A
dbSNPrs11657747 Polymorphismp.THR878METN/A
dbSNPrs11651595 Polymorphismp.THR246SERN/A
dbSNPrs52795654 Polymorphismp.THR782SERN/A
dbSNPrs11653832 Polymorphismp.VAL1245LEUN/A
dbSNPrs2301582 Polymorphismp.VAL1063METN/A
OMIM606636.0001 Diseasep.LEU155HISVITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1
OMIM606636.0002 Diseasep.MET77THRCORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA (1 family)



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