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Results for the Protein: NP_001138767
223941808

peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 4 [Homo sapiens]

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IV (1 FAMILY)
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Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PUB - pfam09409
PUG - smart00580
Transglut_core - pfam01841
TGc - smart00460
Rad4 - pfam03835
PAW - smart00613




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Rad4pfam038350.00038322445
PUBpfam094096.1e-3123105
PUGsmart005801.6e-233091
TGcsmart004607.8e-15301356
PAWsmart006130.00038487558

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM610661.0002 Diseasep.ARG401TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv (1 family)



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