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Results for the Protein: NP_001139188
224589138

patatin-like phospholipase domain-containing protein 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
1
5
1
5
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Pat_PNPLA2 - cd07220
Pat_PNPLA3 - cd07221
Pat_PNPLA5-mammals - cd07223
Patatin_and_cPLA2 - cd01819
Pat_PNPLA1 - cd07219
Patatin - cd07198
Pat_PNPLA_like - cd07204
Pat_iPLA2 - cd07218
Pat_PNPLA4 - cd07222




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Patatin_and_cPLA2cd018192.5e-051106
Patatincd071981.6e-071106
Pat_PNPLA_likecd072044.6e-751171
Pat_iPLA2cd072184.2e-281175
Pat_PNPLA1cd072198.1e-1811302
Pat_PNPLA2cd072201.2e-271172
Pat_PNPLA3cd072211.9e-151180
Pat_PNPLA5-mammalscd072236.6e-051298
Pat_PNPLA4cd072229e-142173

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs74946910 Polymorphismp.ALA145THRN/A
dbSNPrs34598813 Polymorphismp.GLU202GLYN/A
dbSNPrs12199580 Polymorphismp.PRO337HISN/A
dbSNPrs4713956 Polymorphismp.SER436PRON/A
dbSNPrs12197079 Polymorphismp.THR404METN/A
OMIM612121.0001 Diseasep.GLU36TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10



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