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EC Number
Protein Variants
Commentary
Reference
2.7.1.14
E71X
mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins
738810
2.7.1.14
Q126K
mutant shows substantially reduced sedoheptulose kinase activity
721990
2.7.1.14
R119X
mutation identified in a patient with an isolated sedoheptulokinase deficiency, predicted to result in truncated nonfunctional proteins
738810
2.7.1.14
T14M/T15K
mutant shows substantially reduced sedoheptulose kinase activity
721990
2.7.1.14
W125D
mutant shows substantially reduced sedoheptulose kinase activity
721990
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