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Results for the Protein: Q96IV0
74732105

NGLY1_HUMAN RecName: Full=Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; Short=PNGase; Short=hPNGase; AltName: Full=N-glycanase 1; AltName: Full=Peptide:N-glycanase

Known Diseases associated with this Protein:
  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IV (1 FAMILY)
1
2
1
0
2
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

PUB - pfam09409
PUG - smart00580
Transglut_core - pfam01841
TGc - smart00460
Rad4 - pfam03835
PAW - smart00613
DUF750 - pfam04721


Swiss-Prot Protein: Q96IV0
Identical to: NP_060767
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Transglut_corepfam018413.3e-16258354
Rad4pfam038350.00038322445
DUF750pfam047210.00032497556
PUBpfam094096.1e-3123105
PUGsmart005801.6e-233091
TGcsmart004607.8e-15301356
PAWsmart006133.7e-34487579

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027386Polymorphismp.GLN591ARGN/A
Swiss-ProtVAR_027385Polymorphismp.VAL581ILEN/A
OMIM610661.0002 Diseasep.ARG401TERCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv (1 family)



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