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Results for the Protein: P08243
13432102
440

ASNS_HUMAN RecName: Full=Asparagine synthetase [glutamine-hydrolyzing]; AltName: Full=Cell cycle control protein TS11; AltName: Full=Glutamine-dependent asparagine synthetase

Known Diseases associated with this Protein:
  ASPARAGINE SYNTHETASE DEFICIENCY
3
1
3
1
0
Tips:
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Default View:

AsnB - COG0367
PurF - COG0034
Gn_AT_II_novel - cd03766
GATase_2 - pfam00310
AsnB - cd00712
Gn_AT_II - cd00352
Asn_synthase - pfam00733
Asn_Synthase_B_C - cd01991
Alpha_ANH_like - cd01986


Swiss-Prot Protein: P08243
Identical to: NP_597680, NP_001664, NP_899199
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Gn_AT_II_novelcd037663.5e-081185
PurFCOG00340.000941335
AsnBCOG03671e-871560
Gn_AT_IIcd003521.6e-422186
AsnBcd007121.2e-632206
Asn_Synthase_B_Ccd019912.2e-83236473
Alpha_ANH_likecd019864.9e-05253398
GATase_2pfam003101.9e-202161
Asn_synthasepfam007338.1e-92234467

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1049674 Polymorphismp.VAL210GLUN/A
OMIM108370.0003 Diseasep.ALA6GLUASPARAGINE SYNTHETASE DEFICIENCY
OMIM108370.0002 Diseasep.ARG550CYSASPARAGINE SYNTHETASE DEFICIENCY
OMIM108370.0001 Diseasep.PHE362VALASPARAGINE SYNTHETASE DEFICIENCY



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