Literature summary for 3.2.1.183 extracted from

Cerino, M.; Gorokhova, S.; Behin, A.; Urtizberea, J.A.; Kergourlay, V.; Salvo, E.; Bernard, R.; Levy, N.; Bartoli, M.; Krahn, M.
Novel pathogenic variants in a french cohort widen the mutational spectrum of GNE myopathy (2015), J. Neuromuscul. Dis., 2, 131-136 .

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Cloned(Commentary)

Cloned (Comment)	Organism
gene gne, genotyping, transcriptional analysis of the GNE variant c.717T>G, recombinant expression of splicing mutant c.717T>G in HEK 293 cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
A287V	naturally occuring mutation, pathogenic variant with possible effect on splicing, severe phenotype	Homo sapiens
C612F	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
C617Y	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
D227Y	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
D239E	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, , mild phenotype	Homo sapiens
D239N	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, mild phenotype	Homo sapiens
D244V	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, moderate phenotype	Homo sapiens
D316H	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
E33G	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, severe phenotype	Homo sapiens
G237S	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, moderate phenotype	Homo sapiens
G395R	naturally occuring mutation, pathogenic variant, effect on splicing is uncertain, severe phenotype	Homo sapiens
G590R	naturally occuring mutation, pathogenic variant with possible effect on splicing, severe phenotype	Homo sapiens
G700R	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, severe phenotype	Homo sapiens
H179Q	naturally occuring mutation, pathogenic variant with possible effect on splicing, severe phenotype	Homo sapiens
H251P	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
K406N	naturally occuring mutation, pathogenic variant without effect on splicing, moderate phenotype	Homo sapiens
L682R	naturally occuring mutation, pathogenic variant without effect on splicing, severe phenotype	Homo sapiens
M60R	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, severe phenotype	Homo sapiens
M91V	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, mild phenotype	Homo sapiens
additional information	genotyping of GNE myopathy index patients of a kohort, overview. Functional analysis of possibly abnormal splicing caused by c.717T>G mutation using an in vitro minigene splicing assay. Phenotype modelling	Homo sapiens
R512P	naturally occuring mutation, pathogenic variant without effect on splicing, moderate phenotype	Homo sapiens
R90X	naturally occuring mutation, pathogenic variant with possible effect on splicing, severe phenotype	Homo sapiens
Y465C	naturally occuring mutation, pathogenic variant with predicted deleterious effects on splicing, moderate phenotype	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q9Y223	-	-

Synonyms

Synonyms	Comment	Organism
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase	-	Homo sapiens
GNE	-	Homo sapiens
UDP-GlcNAc-2-epimerase	-	Homo sapiens
UDP-GlcNAc-2-epimerase/ManAc kinase	-	Homo sapiens
uridine diphosphate-N-acetylglucosamine-2-epimerase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	phenotype-genotype analysis of GNE myopathy index patients of a kohort, overview	Homo sapiens