Results for the protein: NP

Results for the Protein: NP_775947

224593249

285848

PNPLA1

NCBI

patatin-like phospholipase domain-containing protein 1 isoform 1 [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_PNPLA5-mammals - cd07223 Pat_like - cd07224 Pat_PNPLA2 - cd07220 Pat_PNPLA3 - cd07221 Pat_PNPLA1 - cd07219 Patatin - cd07198 Patatin_and_cPLA2 - cd01819 Pat_PNPLA_like - cd07204 Pat_iPLA2 - cd07218 Pat_PNPLA4 - cd07222	RefSeq Protein: NP_775947 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Patatin	cd07198	2.7e-09	1	97
Pat_PNPLA_like	cd07204	9.6e-81	1	162
Pat_iPLA2	cd07218	1.3e-33	1	166
Pat_PNPLA1	cd07219	4.2e-186	1	293
Pat_PNPLA3	cd07221	2.1e-20	1	171
Pat_PNPLA5-mammals	cd07223	8.9e-06	1	289
Pat_like	cd07224	0.00016	1	162
Pat_PNPLA2	cd07220	2.2e-28	1	163
Pat_PNPLA4	cd07222	1.7e-14	2	164

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs74946910	Polymorphism	p.ALA136THR	N/A
dbSNP	rs34598813	Polymorphism	p.GLU193GLY	N/A
dbSNP	rs12199580	Polymorphism	p.PRO328HIS	N/A
dbSNP	rs4713956	Polymorphism	p.SER427PRO	N/A
dbSNP	rs12197079	Polymorphism	p.THR395MET	N/A
OMIM	612121.0001	Disease	p.GLU36TER	ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10

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