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Results for the Protein: NP_001161086
264681410

inner nuclear membrane protein Man1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  BUSCHKE-OLLENDORFF SYNDROME
  DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED
  OSTEOPOIKILOSIS WITH MELORHEOSTOSIS
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Default View:

LEM - smart00540
LEM - pfam03020
MSC - pfam09402
RRM_SF - cd00590




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
LEMpfam030208e-23749
LEMsmart005406.3e-22750
MSCpfam094021.8e-76476750

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM607844.0008 Diseasep.ARG654TEROSTEOPOIKILOSIS WITH MELORHEOSTOSIS||DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED, INCLUDED
OMIM607844.0007 Diseasep.TRP854TERBUSCHKE-OLLENDORFF SYNDROME



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