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Details on Person Jassal, Bijay, 2015-06-30
| Class:Id | InstanceEdit:6785673 |
| _displayName | Jassal, Bijay, 2015-06-30 |
| _timestamp | 2015-06-30 10:41:30 |
| author | [Person:73447] Jassal, Bijay |
| dateTime | 2015-06-30 14:41:24 |
| (created) | [Summation:6785674] Glycosyltransferase-like protein LARGE (MIM:603590) is a bif... [EntityWithAccessionedSequence:6785675] LARGE S331F [Golgi membrane] [Homo sapiens] [ReplacedResidue:6785676] L-serine 331 replaced with L-phenylalanine [EntityFunctionalStatus:6785677] loss_of_function of B4GAT1:LARGE mutants [Golgi membrane] [EntityWithAccessionedSequence:6785678] LARGE E509K [Golgi membrane] [Homo sapiens] [EntityWithAccessionedSequence:6785679] LARGE E669Gfs*26 [Golgi membrane] [Homo sapiens] [DefinedSet:6785680] LARGE mutants [Golgi membrane] [Homo sapiens] [FragmentReplacedModification:6785681] Replacement of residues 669 to 693 by GVRPEVCRLWLEQSGSYHGAGCAGV [ReplacedResidue:6785682] L-glutamic acid 509 replaced with L-lysine [EntityWithAccessionedSequence:6785683] LARGE W495R [Golgi membrane] [Homo sapiens] |
| (modified) | [PathwayDiagram:981850] Diagram of O-linked glycosylation, Defective C1GALT1C1 causes TNPS, Defective GALNT3 causes HFTC, Defective GALNT12 causes CRCS1, Defective B3GALTL causes PpS, Defective LARGE causes MDDGA6 and MDDGB6, Defective POMGNT1 causes MDDGA3, MDDGB3 and MDDGC3, Defective POMT1 causes MDDGA1, MDDGB1 and MDDGC1, and Defective POMT2 causes MDDGA2, MDDGB2 and MDDGC2 [Pathway:5083627] Defective LARGE causes MDDGA6 and MDDGB6 [Homo sapiens] [FailedReaction:6785668] Defective LARGE does not transfer Xyl from UDP-Xyl to GlcA [Homo sapiens] |
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No pathways have been reviewed or authored by Jassal, Bijay, 2015-06-30 (6785673)