Results for the protein: NP

Results for the Protein: NP_001139188

224589138

285848

PNPLA1

NCBI

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	RefSeq Protein: NP_001139188 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Patatin	cd07198	1.6e-07	1	106
Pat_PNPLA_like	cd07204	4.6e-75	1	171
Pat_iPLA2	cd07218	4.2e-28	1	175
Pat_PNPLA1	cd07219	8.1e-181	1	302
Pat_PNPLA2	cd07220	1.2e-27	1	172
Pat_PNPLA3	cd07221	1.9e-15	1	180
Pat_PNPLA5-mammals	cd07223	6.6e-05	1	298
Pat_PNPLA4	cd07222	9e-14	2	173

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs74946910	Polymorphism	p.ALA145THR	N/A
dbSNP	rs34598813	Polymorphism	p.GLU202GLY	N/A
dbSNP	rs12199580	Polymorphism	p.PRO337HIS	N/A
dbSNP	rs4713956	Polymorphism	p.SER436PRO	N/A
dbSNP	rs12197079	Polymorphism	p.THR404MET	N/A
OMIM	612121.0001	Disease	p.GLU36TER	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10

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