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Results for the Protein: NP_001248358
387528015

phosphatidate phosphatase LPIN1 isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  MYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
2
0
2
0
0
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Default View:

Lipin_N - pfam04571
SMP2 - COG5083




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Lipin_Npfam045714.2e-797120

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM605518.0002 Diseasep.ARG345TERMYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE
OMIM605518.0001 Diseasep.GLU172TERMYOGLOBINURIA, RECURRENT, AUTOSOMAL RECESSIVE



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