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Results for the Protein: Q8N8W4
296452995

PLPL1_HUMAN RecName: Full=Patatin-like phospholipase domain-containing protein 1

Known Diseases associated with this Protein:
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (ARCI10)
3
5
2
3
3
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_PNPLA1 - cd07219
RssA - COG1752
Pat_PNPLA2 - cd07220
Pat_PNPLA3 - cd07221
Pat_hypo_W_succinoge - cd07210
Pat_iPLA2 - cd07218
Pat_like - cd07224
Pat_PNPLA4 - cd07222
Pat_PNPLA_like - cd07204
Pat_ExoU_VipD_like - cd07207
Patatin - pfam01734
Pat_hypo_Ecoli_Z1214 - cd07209
Patatin - cd07198
Patatin_and_cPLA2 - cd01819
Pat_hypo_Ecoli_yjju_ - cd07208


Swiss-Prot Protein: Q8N8W4
Identical to: NP_001139189
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Pat_PNPLA5-mammalscd072232.5e-341384
Pat_PNPLA1cd072192388
RssACOG17528.1e-064305
Pat_PNPLA2cd072208.2e-7911258
Pat_hypo_W_succinogecd072100.0002414241
Pat_iPLA2cd072184.1e-8314261
Pat_PNPLA3cd072211e-7614266
Pat_PNPLA_likecd072042.9e-16615257
Pat_ExoU_VipD_likecd072074.8e-0515200
Pat_PNPLA4cd072228.7e-5715259
Pat_likecd072244.7e-1215257
Patatin_and_cPLA2cd018192e-5916192
Patatincd071981e-7116192
Pat_hypo_Ecoli_Z1214cd072090.0003416256
Pat_hypo_Ecoli_yjju_cd072080.0001918251
Patatinpfam017344e-1316184

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs74946910 Polymorphismp.ALA231THRN/A
Swiss-ProtVAR_069566Diseasep.ALA59VALIchthyosis, congenital, autosomal recessive 10 (ARCI10)
dbSNPrs34598813 Polymorphismp.GLU288GLYN/A
Swiss-ProtVAR_032929Polymorphismp.PRO423HISN/A
Swiss-ProtVAR_032931Polymorphismp.SER522PRON/A
dbSNPrs12197079 Polymorphismp.THR490METN/A
OMIM612121.0002 Diseasep.ALA59VALICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10
OMIM612121.0001 Diseasep.GLU131TERICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10



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